FANCI
MCID: FNC029
MIFTS: 55

Fanconi Anemia, Complementation Group I (FANCI)

Categories: Blood diseases, Bone diseases, Cancer diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group I

MalaCards integrated aliases for Fanconi Anemia, Complementation Group I:

Name: Fanconi Anemia, Complementation Group I 57 29 13 6 39 70
Fanconi Anemia Complementation Group I 12 72 15
Fanci 57 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
fanconi anemia, complementation group i:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fanconi Anemia, Complementation Group I

OMIM® : 57 Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011). For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see 227650. (609053) (Updated 05-Apr-2021)

MalaCards based summary : Fanconi Anemia, Complementation Group I, also known as fanconi anemia complementation group i, is related to progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 and fanconi anemia, complementation group l. An important gene associated with Fanconi Anemia, Complementation Group I is FANCI (FA Complementation Group I), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. The drugs Dopamine and Fenoldopam have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, breast and kidney, and related phenotypes are abnormality of cardiovascular system morphology and abnormal renal morphology

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26.

UniProtKB/Swiss-Prot : 72 Fanconi anemia complementation group I: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

Related Diseases for Fanconi Anemia, Complementation Group I

Diseases in the Fanconi Anemia, Complementation Group C family:

Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group a
Fanconi Anemia, Complementation Group B Fanconi Anemia, Complementation Group E
Fanconi Anemia, Complementation Group F Fanconi Anemia, Complementation Group D1
Fanconi Anemia, Complementation Group I Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N Fanconi Anemia, Complementation Group O
Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group G
Fanconi Anemia, Complementation Group L Fanconi Anemia, Complementation Group Q
Fanconi Anemia, Complementation Group T Fanconi Anemia, Complementation Group V
Fanconi Anemia, Complementation Group R Fanconi Anemia, Complementation Group U
Fanconi Anemia, Complementation Group W Fanconi Anemia, Complementation Group S

Diseases related to Fanconi Anemia, Complementation Group I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 31.5 POLG FANCI
2 fanconi anemia, complementation group l 31.5 FANCL FANCI FANCD2
3 interstitial nephritis, karyomegalic 31.1 FANCI FANCD2 FAN1 FAAP20
4 fanconi anemia, complementation group u 30.9 FANCM FANCL FANCI FANCD2 FANCA
5 fanconi anemia, complementation group c 30.7 FANCL FANCI FANCF FANCD2 FANCA
6 fanconi anemia, complementation group v 30.5 FANCM FANCL FANCI FANCD2 FANCA FAAP24
7 fanconi anemia, complementation group r 30.4 FANCM FANCL FANCI FANCF FANCD2 FANCA
8 fanconi anemia, complementation group q 30.3 FANCM FANCL FANCI FANCF FANCD2 FANCA
9 esophageal atresia 30.3 FANCM FANCL FANCI FANCF FANCD2 FANCA
10 fanconi anemia, complementation group d2 30.0 USP1 H2AC18 FANCM FANCL FANCI FANCF
11 xeroderma pigmentosum, variant type 30.0 USP1 H2AC18 FANCM FANCL FANCI FANCD2
12 seckel syndrome 30.0 H2AC18 FANCM FANCL FANCI FANCD2 FANCA
13 aplastic anemia 29.9 H2AC18 FANCM FANCL FANCI FANCF FANCD2
14 fanconi anemia, complementation group o 29.8 FANCM FANCL FANCI FANCF FANCD2 FANCA
15 fanconi anemia, complementation group d1 29.8 H2AC18 FANCM FANCL FANCI FANCF FANCD2
16 fanconi anemia, complementation group p 29.7 H2AC18 FANCM FANCL FANCI FANCF FANCD2
17 fanconi anemia, complementation group e 29.7 FANCF FANCD2 FANCA
18 deficiency anemia 29.4 H2AC18 FANCM FANCI FANCF FANCD2 FANCA
19 fanconi anemia, complementation group b 29.4 FANCL FANCF FANCD2 FANCA
20 fanconi anemia, complementation group t 29.3 H2AC18 FANCM FANCL FANCI FANCF FANCD2
21 fanconi anemia, complementation group j 29.3 H2AC18 FANCM FANCL FANCI FANCF FANCD2
22 fanconi anemia, complementation group n 29.2 H2AC18 FANCM FANCL FANCI FANCF FANCD2
23 fanconi anemia, complementation group a 26.8 USP1 POLG H2AC18 FANCM FANCL FANCI
24 gastric cancer 11.1
25 vacterl association 11.0
26 microcephaly 11.0
27 mitochondrial dna depletion syndrome 1 10.8
28 mitochondrial dna depletion syndrome 4b 10.8
29 mitochondrial dna depletion syndrome 10.8
30 autosomal dominant progressive external ophthalmoplegia 10.8
31 mitochondrial dna depletion syndrome 4a 10.1 POLG FANCI ERCC6
32 muscle tissue disease 10.0 POLG H2AC18 ERCC6
33 interstitial nephritis 10.0
34 hypogonadism 10.0
35 xeroderma pigmentosum, complementation group f 10.0 FANCM FANCD2 FAAP24 ERCC6
36 muscular disease 10.0 POLG H2AC18 ERCC6
37 severe combined immunodeficiency with sensitivity to ionizing radiation 10.0 H2AC18 ERCC6
38 autosomal recessive cerebellar ataxia 9.9 H2AC18 ERCC6 ATR
39 fanconi anemia, complementation group f 9.9 FANCF FANCD2 FANCA
40 cerebellar disease 9.9 POLG H2AC18 ERCC6 ATR
41 triiodothyronine receptor auxiliary protein 9.8
42 vater/vacterl association 9.8
43 ataxia-telangiectasia 9.8
44 bloom syndrome 9.8
45 ataxia and polyneuropathy, adult-onset 9.8
46 lung cancer susceptibility 3 9.8
47 helix syndrome 9.8
48 fanconi anemia, complementation group s 9.8
49 telangiectasis 9.8
50 adenocarcinoma 9.8

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group I:



Diseases related to Fanconi Anemia, Complementation Group I

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group I

Human phenotypes related to Fanconi Anemia, Complementation Group I:

31 (show all 34)
# Description HPO Frequency HPO Source Accession
1 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
2 abnormal renal morphology 31 occasional (7.5%) HP:0012210
3 short stature 31 very rare (1%) HP:0004322
4 bone marrow hypocellularity 31 very rare (1%) HP:0005528
5 chromosomal breakage induced by crosslinking agents 31 very rare (1%) HP:0003221
6 agenesis of corpus callosum 31 HP:0001274
7 short neck 31 HP:0000470
8 hypothyroidism 31 HP:0000821
9 global developmental delay 31 HP:0001263
10 microcephaly 31 HP:0000252
11 intrauterine growth retardation 31 HP:0001511
12 horseshoe kidney 31 HP:0000085
13 myopia 31 HP:0000545
14 pallor 31 HP:0000980
15 conductive hearing impairment 31 HP:0000405
16 microphthalmia 31 HP:0000568
17 vesicoureteral reflux 31 HP:0000076
18 renal hypoplasia 31 HP:0000089
19 ventricular septal defect 31 HP:0001629
20 arnold-chiari malformation 31 HP:0002308
21 neutropenia 31 HP:0001875
22 absent septum pellucidum 31 HP:0001331
23 decreased body weight 31 HP:0004325
24 triangular face 31 HP:0000325
25 short 1st metacarpal 31 HP:0010034
26 astigmatism 31 HP:0000483
27 hypoplasia of the radius 31 HP:0002984
28 colpocephaly 31 HP:0030048
29 cafe-au-lait spot 31 HP:0000957
30 fused cervical vertebrae 31 HP:0002949
31 absent thumb 31 HP:0009777
32 optic nerve hypoplasia 31 HP:0000609
33 patent foramen ovale 31 HP:0001655
34 decreased response to growth hormone stimuation test 31 HP:0000824

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
agenesis of corpus callosum
arnold-chiari malformation
absent septum pellucidum
colpocephaly
developmental delay
more
Endocrine Features:
hypothyroidism
growth hormone deficiency
hypothyroidism, tertiary (central)

Growth Height:
short stature

Head And Neck Eyes:
myopia
microphthalmia
astigmatism
optic nerve hypoplasia
optic nerve pallor

Genitourinary Ureters:
vesicoureteral reflux

Head And Neck Face:
triangular face
fanconi facies

Head And Neck Ears:
hearing loss, conductive
right auditory canal atresia
auditory canal stenosis
abnormal ossicles

Growth Weight:
low weight

Skeletal Limbs:
short radius

Abdomen Gastrointestinal:
duodenum atresia

Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly

Genitourinary Kidneys:
horseshoe kidney
hypoplastic kidneys

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
patent foramen ovale

Hematology:
neutropenia

Skeletal Spine:
fused cervical vertebrae
narrow c5 vertebra

Skeletal Hands:
absent thumbs
short first metacarpal
hypoplastic thumb
dangling left thumb

Skin Nails Hair Skin:
cafe-au-lait spots

Growth Other:
intrauterine growth retardation (iugr)
small for gestation age (<10%)

Clinical features from OMIM®:

609053 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group I according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.91 ATR ERCC6 FANCA FANCD2 USP1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.91 ATR ERCC6 FANCA FANCD2 FANCM USP1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.91 ATR ERCC6 FAN1 FANCA FANCD2 USP1

MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 ATR ERCC6 FAAP20 FAN1 FANCA FANCD2
2 mortality/aging MP:0010768 10 ATR CENPU ERCC6 FAN1 FANCA FANCD2
3 endocrine/exocrine gland MP:0005379 9.96 ATR BHLHE40 FAAP20 FANCA FANCD2 FANCF
4 neoplasm MP:0002006 9.5 ATR ERCC6 FANCA FANCD2 FANCF FANCM
5 reproductive system MP:0005389 9.28 ATR FAAP20 FANCA FANCD2 FANCF FANCL

Drugs & Therapeutics for Fanconi Anemia, Complementation Group I

Drugs for Fanconi Anemia, Complementation Group I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
2
Fenoldopam Approved Phase 4 67227-56-9, 67227-57-0 3341
3 Vasodilator Agents Phase 4
4 Dopamine Agents Phase 4
5 Neurotransmitter Agents Phase 4
6 Dopamine agonists Phase 4
7 Antihypertensive Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Fenoldopam for Prevention of Acute kidNey Injury in Patients With aCute coronarY Syndrome Undergoing Coronary Angiography and/or Percutaneous Coronary Intervention - The FANCY Trial Unknown status NCT01690832 Phase 4 standard saline infusion;fenoldopam infusion
2 A Study on the Homologous Recombination Deficiency Status in Chinese Population With Epithelial Ovarian Cancer Recruiting NCT04190667
3 Selective Rather Than Routine Histopathological Examination Following Appendectomy and Cholecystectomy; the FANCY Study. Active, not recruiting NCT03510923

Search NIH Clinical Center for Fanconi Anemia, Complementation Group I

Genetic Tests for Fanconi Anemia, Complementation Group I

Genetic tests related to Fanconi Anemia, Complementation Group I:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group I 29 FANCI

Anatomical Context for Fanconi Anemia, Complementation Group I

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group I:

40
Bone Marrow, Breast, Kidney, Bone, Pituitary, Prostate, Brain

Publications for Fanconi Anemia, Complementation Group I

Articles related to Fanconi Anemia, Complementation Group I:

(show top 50) (show all 232)
# Title Authors PMID Year
1
Novel FANCI mutations in Fanconi anemia with VACTERL association. 57 6 61
26590883 2016
2
FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. 6 57 61
17460694 2007
3
Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. 61 6 57
17412408 2007
4
Identification of the Fanconi anemia complementation group I gene, FANCI. 6 57 61
17452773 2007
5
Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer. 61 6
24989076 2015
6
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing. 6 61
22720145 2012
7
Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes. 57 61
14630800 2004
8
Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4. 6
23093618 2013
9
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing. 6
22778927 2012
10
First systematic experience of preimplantation genetic diagnosis for de-novo mutations. 6
21324748 2011
11
Fanconi anemia: at the crossroads of DNA repair. 57
21568838 2011
12
Genetic subtyping of Fanconi anemia by comprehensive mutation screening. 6
17924555 2008
13
Structural basis of FANCD2 deubiquitination by USP1-UAF1. 61
33795880 2021
14
Structure of the FA core ubiquitin ligase closing the ID clamp on DNA. 61
33686268 2021
15
Oncogenic HPV promotes the expression of the long noncoding RNA lnc-FANCI-2 through E7 and YY1. 61
33436409 2021
16
Identification of novel biomarkers and candidate small-molecule drugs in cutaneous melanoma by comprehensive gene microarrays analysis. 61
33531976 2021
17
Woman with Turner syndrome and her child with acute leukemia (a case report). 61
33355873 2020
18
[Analysis of Gene Variation in Thymoma by Microarray]. 61
33357314 2020
19
A new risk stratification system of prostate cancer to identify high-risk biochemical recurrence patients. 61
33457230 2020
20
Develop a circular RNA-related regulatory network associated with prognosis of gastric cancer. 61
32902196 2020
21
Inactivation of ribosomal protein S27-like impairs DNA interstrand cross-link repair by destabilization of FANCD2 and FANCI. 61
33051438 2020
22
The ubiquitination machinery of the Fanconi Anemia DNA repair pathway. 61
33058944 2020
23
Structural insight into FANCI-FANCD2 monoubiquitination. 61
32725171 2020
24
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report. 61
32867815 2020
25
Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia. 61
32868804 2020
26
High-Throughput Sequencing of Gastric Cancer Patients: Unravelling Genetic Predispositions Towards an Early-Onset Subtype. 61
32708070 2020
27
Generation of a human induced pluripotent stem cell line (CMCi001-A) from a patient with karyomegalic interstitial nephritis with homozygous frameshift deletion mutation c.1985_1994del10 of the FANCD2/FANCI-Associated Nuclease 1 gene. 61
32563974 2020
28
WRNIP1 Is Recruited to DNA Interstrand Crosslinks and Promotes Repair. 61
32640220 2020
29
Differential functions of FANCI and FANCD2 ubiquitination stabilize ID2 complex on DNA. 61
32510829 2020
30
Characterization of FANCL variants observed in patient cancer cells. 61
32420600 2020
31
Ubiquitination Causes Fanconi Anemia-Linked ID Complex Ring Formation. 61
32198134 2020
32
FANCL gene mutations in premature ovarian insufficiency. 61
32048394 2020
33
Are Pathogenic Germline Variants in Metastatic Melanoma Associated with Resistance to Combined Immunotherapy? 61
32354124 2020
34
DNA clamp function of the monoubiquitinated Fanconi anaemia ID complex. 61
32269332 2020
35
Transcription-replication conflicts as a source of common fragile site instability caused by BMI1-RNF2 deficiency. 61
32142505 2020
36
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. 61
32235514 2020
37
Allosteric mechanism for site-specific ubiquitination of FANCD2. 61
31873223 2020
38
MLH1-mediated recruitment of FAN1 to chromatin for the induction of apoptosis triggered by O6 -methylguanine. 61
31955481 2020
39
FANCD2-FANCI is a clamp stabilized on DNA by monoubiquitination of FANCD2 during DNA repair. 61
32066963 2020
40
Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer. 61
32091409 2020
41
Genome-wide study of immune biomarkers in cerebrospinal fluid and serum from patients with bipolar disorder and controls. 61
32066700 2020
42
DNA methylation biomarkers for nasopharyngeal carcinoma. 61
32271791 2020
43
FANCI Cooperates with IMPDH2 to Promote Lung Adenocarcinoma Tumor Growth via a MEK/ERK/MMPs Pathway. 61
32021289 2020
44
Bioinformatics Analysis of Prognostic miRNA Signature and Potential Critical Genes in Colon Cancer. 61
32582275 2020
45
In vivo analysis of FANCD2 recruitment at meiotic DNA breaks in Caenorhabditis elegans. 61
31919410 2020
46
Screening and Identification of Therapeutic Targets for Pulmonary Arterial Hypertension Through Microarray Technology. 61
32849793 2020
47
Homocysteine aggravates DNA damage by impairing the FA/Brca1 Pathway in NE4C murine neural stem cells. 61
33029090 2020
48
ATR-Mediated FANCI Phosphorylation Regulates Both Ubiquitination and Deubiquitination of FANCD2. 61
32117957 2020
49
MTDH/AEG-1 downregulation using pristimerin-loaded nanoparticles inhibits Fanconi anemia proteins and increases sensitivity to platinum-based chemotherapy. 61
31477281 2019
50
Structure of the Fanconi anaemia monoubiquitin ligase complex. 61
31666700 2019

Variations for Fanconi Anemia, Complementation Group I

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group I:

6 (show top 50) (show all 187)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FANCI FANCI, 2T-C SNV Pathogenic 971 GRCh37:
GRCh38:
2 FANCI NM_018193.3(FANCI):c.3674G>A (p.Arg1225Gln) SNV Pathogenic 972 rs121918163 GRCh37: 15:89858550-89858550
GRCh38: 15:89315319-89315319
3 FANCI FANCI, IVS31AS, A-G, -88 SNV Pathogenic 974 GRCh37:
GRCh38:
4 FANCI NM_001113378.2(FANCI):c.2T>C (p.Met1Thr) SNV Pathogenic 929712 GRCh37: 15:89790880-89790880
GRCh38: 15:89247649-89247649
5 FANCI NM_001113378.2(FANCI):c.157+78G>A SNV Pathogenic 929713 GRCh37: 15:89802085-89802085
GRCh38: 15:89258854-89258854
6 FANCI NM_001113378.2(FANCI):c.3437_3455del (p.His1146fs) Deletion Pathogenic 929714 GRCh37: 15:89849324-89849342
GRCh38: 15:89306093-89306111
7 FANCI NM_001113378.2(FANCI):c.3521C>T (p.Thr1174Ile) SNV Pathogenic 929715 GRCh37: 15:89849409-89849409
GRCh38: 15:89306178-89306178
8 FANCI NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) Deletion Pathogenic 929716 GRCh37: 15:89850874-89850875
GRCh38: 15:89307643-89307644
9 FANCI NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) SNV Pathogenic 929717 GRCh37: 15:89858591-89858591
GRCh38: 15:89315360-89315360
10 FANCI NM_001113378.2(FANCI):c.3901dup (p.Asp1301fs) Duplication Pathogenic 929718 GRCh37: 15:89858595-89858596
GRCh38: 15:89315364-89315365
11 POLG , FANCI NM_001113378.2(FANCI):c.3925_*672del (p.Gly1309_Ter1329del) Deletion Pathogenic 929719 GRCh37: 15:89859628-89860362
GRCh38: 15:89316397-89317131
12 FANCI NM_001113378.2(FANCI):c.756-25_756-19del Deletion Pathogenic 929720 GRCh37: 15:89811603-89811609
GRCh38: 15:89268372-89268378
13 FANCI NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro) SNV Pathogenic 929721 GRCh37: 15:89811740-89811740
GRCh38: 15:89268509-89268509
14 FANCI NM_001113378.2(FANCI):c.1264G>C (p.Gly422Arg) SNV Pathogenic 929722 GRCh37: 15:89820093-89820093
GRCh38: 15:89276862-89276862
15 FANCI NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter) SNV Pathogenic 929726 GRCh37: 15:89833462-89833462
GRCh38: 15:89290231-89290231
16 FANCI NM_001113378.2(FANCI):c.2248T>C (p.Cys750Arg) SNV Pathogenic 929727 GRCh37: 15:89836251-89836251
GRCh38: 15:89293020-89293020
17 FANCI NM_001113378.2(FANCI):c.2572C>T (p.His858Tyr) SNV Pathogenic 929728 GRCh37: 15:89838261-89838261
GRCh38: 15:89295030-89295030
18 FANCI NM_001113378.2(FANCI):c.3006+3A>G SNV Pathogenic 929729 GRCh37: 15:89844676-89844676
GRCh38: 15:89301445-89301445
19 FANCI NM_001113378.2(FANCI):c.3058+1G>A SNV Pathogenic 929730 GRCh37: 15:89847147-89847147
GRCh38: 15:89303916-89303916
20 FANCI NM_001113378.2(FANCI):c.3058+4A>G SNV Pathogenic 929731 GRCh37: 15:89847150-89847150
GRCh38: 15:89303919-89303919
21 FANCI NM_001113378.2(FANCI):c.3350-88A>G SNV Pathogenic 929732 GRCh37: 15:89849150-89849150
GRCh38: 15:89305919-89305919
22 FANCI NM_001113378.1(FANCI):c.3493del (p.Asp1165fs) Deletion Pathogenic 408200 rs758597713 GRCh37: 15:89849380-89849380
GRCh38: 15:89306149-89306149
23 FANCI NM_001113378.1(FANCI):c.3604G>C (p.Gly1202Arg) SNV Pathogenic 641741 rs747326740 GRCh37: 15:89850856-89850856
GRCh38: 15:89307625-89307625
24 FANCI NM_018193.3(FANCI):c.3673C>T (p.Arg1225Ter) SNV Pathogenic 973 rs121918164 GRCh37: 15:89858549-89858549
GRCh38: 15:89315318-89315318
25 FANCI NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter) SNV Pathogenic 408247 rs769248873 GRCh37: 15:89824480-89824480
GRCh38: 15:89281249-89281249
26 FANCI NM_001113378.2(FANCI):c.2422A>T SNV Pathogenic/Likely pathogenic 208639 rs375656231 GRCh37: 15:89837194-89837194
GRCh38: 15:89293963-89293963
27 FANCI NM_001113378.1(FANCI):c.158-2A>G SNV Likely pathogenic 225355 rs762128147 GRCh37: 15:89803942-89803942
GRCh38: 15:89260711-89260711
28 FANCI NM_001113378.1(FANCI):c.3041G>A (p.Cys1014Tyr) SNV Likely pathogenic 631744 rs140404896 GRCh37: 15:89847129-89847129
GRCh38: 15:89303898-89303898
29 FANCI NM_001113378.1(FANCI):c.2509G>T (p.Glu837Ter) SNV Likely pathogenic 631743 rs748000458 GRCh37: 15:89838198-89838198
GRCh38: 15:89294967-89294967
30 FANCI NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter) SNV Likely pathogenic 1031096 GRCh37: 15:89843131-89843131
GRCh38: 15:89299900-89299900
31 FANCI NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) SNV Conflicting interpretations of pathogenicity 238309 rs144908351 GRCh37: 15:89825056-89825056
GRCh38: 15:89281825-89281825
32 FANCI NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu) SNV Uncertain significance 886652 GRCh37: 15:89817475-89817475
GRCh38: 15:89274244-89274244
33 FANCI NM_001113378.1(FANCI):c.3055C>T (p.Arg1019Trp) SNV Uncertain significance 435162 rs149167939 GRCh37: 15:89847143-89847143
GRCh38: 15:89303912-89303912
34 FANCI NM_001113378.2(FANCI):c.3656A>G (p.Lys1219Arg) SNV Uncertain significance 998242 GRCh37: 15:89856139-89856139
GRCh38: 15:89312908-89312908
35 FANCI NM_001113378.2(FANCI):c.775G>A (p.Val259Met) SNV Uncertain significance 998243 GRCh37: 15:89811649-89811649
GRCh38: 15:89268418-89268418
36 FANCI NM_001113378.1(FANCI):c.546-6C>T SNV Uncertain significance 317263 rs754929965 GRCh37: 15:89807128-89807128
GRCh38: 15:89263897-89263897
37 FANCI NM_001113378.1(FANCI):c.2768A>G (p.Tyr923Cys) SNV Uncertain significance 317288 rs200907824 GRCh37: 15:89843162-89843162
GRCh38: 15:89299931-89299931
38 FANCI NM_001113378.1(FANCI):c.601A>G (p.Met201Val) SNV Uncertain significance 456223 rs774564150 GRCh37: 15:89807189-89807189
GRCh38: 15:89263958-89263958
39 FANCI NM_001113378.1(FANCI):c.3457C>G (p.Leu1153Val) SNV Uncertain significance 665428 rs368451326 GRCh37: 15:89849345-89849345
GRCh38: 15:89306114-89306114
40 POLG , FANCI NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) SNV Uncertain significance 206575 rs199751339 GRCh37: 15:89860052-89860052
GRCh38: 15:89316821-89316821
41 FANCI NM_001113378.2(FANCI):c.3907G>A (p.Glu1303Lys) SNV Uncertain significance 885822 GRCh37: 15:89858603-89858603
GRCh38: 15:89315372-89315372
42 FANCI NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys) SNV Uncertain significance 998244 GRCh37: 15:89811724-89811724
GRCh38: 15:89268493-89268493
43 FANCI NM_001113378.1(FANCI):c.3896G>T (p.Arg1299Leu) SNV Uncertain significance 317301 rs138663330 GRCh37: 15:89858592-89858592
GRCh38: 15:89315361-89315361
44 FANCI NM_001113378.1(FANCI):c.467G>A (p.Cys156Tyr) SNV Uncertain significance 317261 rs112387610 GRCh37: 15:89805073-89805073
GRCh38: 15:89261842-89261842
45 FANCI NM_018193.3(FANCI):c.2780C>T (p.Thr927Met) SNV Uncertain significance 408238 rs138432305 GRCh37: 15:89844627-89844627
GRCh38: 15:89301396-89301396
46 FANCI NM_001113378.1(FANCI):c.3721G>A (p.Ala1241Thr) SNV Uncertain significance 317297 rs140357734 GRCh37: 15:89857843-89857843
GRCh38: 15:89314612-89314612
47 FANCI NM_001113378.1(FANCI):c.3241G>A (p.Ala1081Thr) SNV Uncertain significance 317292 rs375746069 GRCh37: 15:89848626-89848626
GRCh38: 15:89305395-89305395
48 FANCI NM_001113378.1(FANCI):c.1264G>A (p.Gly422Arg) SNV Uncertain significance 408241 rs146040966 GRCh37: 15:89820093-89820093
GRCh38: 15:89276862-89276862
49 FANCI NM_001113378.1(FANCI):c.3466G>C (p.Gly1156Arg) SNV Uncertain significance 641227 rs200026076 GRCh37: 15:89849354-89849354
GRCh38: 15:89306123-89306123
50 FANCI NM_001113378.1(FANCI):c.196C>T (p.Arg66Cys) SNV Uncertain significance 317258 rs143105092 GRCh37: 15:89803982-89803982
GRCh38: 15:89260751-89260751

UniProtKB/Swiss-Prot genetic disease variations for Fanconi Anemia, Complementation Group I:

72
# Symbol AA change Variation ID SNP ID
1 FANCI p.His858Tyr VAR_032691
2 FANCI p.Arg1285Gln VAR_032692 rs121918163

Expression for Fanconi Anemia, Complementation Group I

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group I.

Pathways for Fanconi Anemia, Complementation Group I

Pathways related to Fanconi Anemia, Complementation Group I according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 USP1 FANCM FANCL FANCI FANCF FANCD2
2
Show member pathways
12.45 POLG FANCF FANCD2 FANCA ERCC6 ATR
3 12.27 USP1 POLG FANCD2 FANCA ATR
4
Show member pathways
11.57 FANCL FANCF FANCD2 FANCA ATR
5 11.37 USP1 FANCM FANCL FANCI FANCF FANCD2
6 11.27 USP1 FANCL FANCD2 ATR
7 11.02 FANCL FANCF FANCD2 FANCA ATR
8 10.58 BHLHE40 ATR

GO Terms for Fanconi Anemia, Complementation Group I

Cellular components related to Fanconi Anemia, Complementation Group I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.13 USP1 MIS18BP1 KIF20B H2AC18 FANCM FANCL
2 nucleoplasm GO:0005654 9.89 USP1 MIS18BP1 KIF20B FANCM FANCL FANCI
3 chromosome GO:0005694 9.72 MIS18BP1 H2AC18 FAAP20 CENPU ATR
4 nuclear body GO:0016604 9.65 FANCL FANCD2 FAAP20 ERCC6 BHLHE40
5 Fanconi anaemia nuclear complex GO:0043240 9.17 FANCM FANCL FANCF FANCA FAAP24 FAAP20

Biological processes related to Fanconi Anemia, Complementation Group I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 9.93 USP1 FANCM FANCL FANCI FANCF FANCD2
2 DNA repair GO:0006281 9.77 USP1 FANCM FANCL FANCI FANCF FANCD2
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.58 POLG FANCM FAN1
4 cellular response to DNA damage stimulus GO:0006974 9.47 USP1 FANCM FANCL FANCI FANCF FANCD2
5 gamete generation GO:0007276 9.43 FANCL FANCD2
6 response to gamma radiation GO:0010332 9.43 POLG FANCD2 ERCC6
7 regulation of regulatory T cell differentiation GO:0045589 9.37 FANCD2 FANCA
8 regulation of CD40 signaling pathway GO:2000348 9.32 FANCD2 FANCA

Molecular functions related to Fanconi Anemia, Complementation Group I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.96 USP1 POLG MIS18BP1 KIF20B H2AC18 FANCM
2 DNA binding GO:0003677 9.36 POLG MIS18BP1 H2AC18 FANCM FANCI FAN1
3 DNA polymerase binding GO:0070182 9.26 FANCI FANCD2
4 ubiquitin-dependent protein binding GO:0140036 9.16 FAN1 FAAP20

Sources for Fanconi Anemia, Complementation Group I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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