FANCI
MCID: FNC029
MIFTS: 54

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 56 29 13 6 39 71
Fanconi Anemia Complementation Group I 12 73 15
Fanci 56 12 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

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


Classifications:



Summaries for Fanconi Anemia, Complementation Group I

OMIM : 56 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)

MalaCards based summary : Fanconi Anemia, Complementation Group I, also known as fanconi anemia complementation group i, is related to mitochondrial dna depletion syndrome 4b and mitochondrial dna depletion syndrome 1. 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. Affiliated tissues include bone, bone marrow and breast, 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 : 73 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 219)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 4b 31.9 POLG FANCI
2 mitochondrial dna depletion syndrome 1 31.9 POLG FANCI
3 fanconi anemia, complementation group d2 31.8 H2AC18 FANCI FANCD2 FANCA
4 autosomal dominant progressive external ophthalmoplegia 31.8 POLG FANCI
5 interstitial nephritis, karyomegalic 31.5 FANCI FANCD2 FAN1
6 fanconi anemia, complementation group c 31.0 FANCI FANCF FANCD2 FANCA
7 fanconi anemia, complementation group u 30.6 FANCM FANCI FANCF FANCD2 FANCA
8 fanconi anemia, complementation group r 30.6 FANCM FANCI FANCF FANCD2 FANCA
9 fanconi anemia, complementation group q 30.6 FANCM FANCI FANCF FANCD2 FANCA
10 fanconi anemia, complementation group v 30.4 FANCM FANCI FANCD2 FANCA FAAP24 FAAP100
11 fanconi anemia, complementation group j 30.0 H2AC18 FANCM FANCI FANCF FANCD2 FANCA
12 fanconi anemia, complementation group d1 30.0 H2AC18 FANCM FANCI FANCF FANCD2 FANCA
13 fanconi anemia, complementation group n 30.0 H2AC18 FANCM FANCI FANCF FANCD2 FANCA
14 esophageal atresia 29.9 FANCM FANCI FANCF FANCD2 FANCA FAAP20
15 fanconi anemia, complementation group o 29.9 FANCM FANCI FANCF FANCD2 FANCA FAAP24
16 seckel syndrome 29.8 H2AC18 FANCM FANCI FANCD2 FANCA FAAP24
17 xeroderma pigmentosum, variant type 29.7 USP1 H2AC18 FANCM FANCI FANCD2 FANCA
18 fanconi anemia, complementation group t 29.1 H2AC18 FANCM FANCI FANCF FANCD2 FANCA
19 fanconi anemia, complementation group p 28.6 H2AC18 FANCM FANCI FANCF FANCD2 FANCA
20 fanconi anemia, complementation group a 25.7 USP1 H2AC18 FANCM FANCI FANCF FANCD2
21 vacterl association 11.5
22 d-glyceric aciduria 11.1
23 mitochondrial dna depletion syndrome 11.1
24 cervical squamous cell carcinoma 11.0
25 hepatosplenic t-cell lymphoma 11.0
26 fanconi anemia, complementation group l 10.2
27 bronchitis 10.1
28 peptic ulcer disease 10.1
29 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.1
30 deficiency anemia 10.1
31 pyruvate dehydrogenase e1-alpha deficiency 10.1 POLG H2AC18
32 aging 10.0
33 heart disease 10.0
34 vascular disease 10.0
35 dermatitis 10.0
36 ischemia 10.0
37 adenoma 10.0
38 neurofibromatosis, type ii 10.0
39 atherosclerosis susceptibility 10.0
40 coronary heart disease 1 10.0
41 endometrial cancer 10.0
42 myocardial infarction 10.0
43 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
44 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 10.0
45 exanthem 10.0
46 lymphoma 10.0
47 pulmonary edema 10.0
48 hypertrophic cardiomyopathy 10.0
49 hypogonadism 10.0
50 hepatitis b 10.0

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 global developmental delay 31 HP:0001263
7 short neck 31 HP:0000470
8 microcephaly 31 HP:0000252
9 hypothyroidism 31 HP:0000821
10 intrauterine growth retardation 31 HP:0001511
11 horseshoe kidney 31 HP:0000085
12 myopia 31 HP:0000545
13 pallor 31 HP:0000980
14 conductive hearing impairment 31 HP:0000405
15 microphthalmia 31 HP:0000568
16 vesicoureteral reflux 31 HP:0000076
17 renal hypoplasia 31 HP:0000089
18 ventricular septal defect 31 HP:0001629
19 arnold-chiari malformation 31 HP:0002308
20 agenesis of corpus callosum 31 HP:0001274
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 growth hormone deficiency 31 HP:0000824
34 patent foramen ovale 31 HP:0001655

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Growth Height:
short stature

Genitourinary Kidneys:
horseshoe kidney
hypoplastic kidneys

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

Neurologic Central Nervous System:
arnold-chiari malformation
agenesis of corpus callosum
absent septum pellucidum
colpocephaly
developmental delay
more
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 Head:
microcephaly

Endocrine Features:
hypothyroidism
growth hormone deficiency
hypothyroidism, tertiary (central)

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

Genitourinary Ureters:
vesicoureteral reflux

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

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 9.81 ATR FANCA FANCD2 USP1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.81 ATR FANCA FANCD2 FANCM USP1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.81 ATR FAN1 FANCA FANCD2 USP1 FAAP24

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 ATR FAAP20 FAN1 FANCA FANCD2 FANCF
2 endocrine/exocrine gland MP:0005379 9.86 ATR FAAP20 FANCA FANCD2 FANCF FANCM
3 hematopoietic system MP:0005397 9.76 ATR FAAP20 FAN1 FANCA FANCD2 FANCM
4 neoplasm MP:0002006 9.43 ATR FANCA FANCD2 FANCF FANCM POLG
5 reproductive system MP:0005389 9.23 ATR FAAP20 FANCA FANCD2 FANCF FANCM

Drugs & Therapeutics for Fanconi Anemia, Complementation Group I

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Acute Neurobehavioral Program for Improving Functional Status After TBI Unknown status NCT01166386 Phase 3
2 A Study on the Homologous Recombination Deficiency Status in Chinese Population With Epithelial Ovarian Cancer Recruiting NCT04190667

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, Bone Marrow, Breast, Kidney, Pituitary, Prostate, Testes

Publications for Fanconi Anemia, Complementation Group I

Articles related to Fanconi Anemia, Complementation Group I:

(show top 50) (show all 214)
# Title Authors PMID Year
1
FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. 56 6 61
17460694 2007
2
Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. 61 56 6
17412408 2007
3
Identification of the Fanconi anemia complementation group I gene, FANCI. 61 56 6
17452773 2007
4
Novel FANCI mutations in Fanconi anemia with VACTERL association. 61 56
26590883 2016
5
Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes. 61 56
14630800 2004
6
Fanconi anemia: at the crossroads of DNA repair. 56
21568838 2011
7
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
8
Esophageal Atresia / Tracheoesophageal Fistula Overview 6
20301753 2009
9
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
10
Fanconi Anemia 6
20301575 2002
11
Differential functions of FANCI and FANCD2 ubiquitination stabilize ID2 complex on DNA. 61
32510829 2020
12
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
13
Characterization of FANCL variants observed in patient cancer cells. 61
32420600 2020
14
Ubiquitination Causes Fanconi Anemia-Linked ID Complex Ring Formation. 61
32198134 2020
15
FANCL gene mutations in premature ovarian insufficiency. 61
32048394 2020
16
Are Pathogenic Germline Variants in Metastatic Melanoma Associated with Resistance to Combined Immunotherapy? 61
32354124 2020
17
DNA clamp function of the monoubiquitinated Fanconi anaemia ID complex. 61
32269332 2020
18
Transcription-replication conflicts as a source of common fragile site instability caused by BMI1-RNF2 deficiency. 61
32142505 2020
19
MLH1-mediated recruitment of FAN1 to chromatin for the induction of apoptosis triggered by O6 -methylguanine. 61
31955481 2020
20
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. 61
32235514 2020
21
Allosteric mechanism for site-specific ubiquitination of FANCD2. 61
31873223 2020
22
FANCD2-FANCI is a clamp stabilized on DNA by monoubiquitination of FANCD2 during DNA repair. 61
32066963 2020
23
Genome-wide study of immune biomarkers in cerebrospinal fluid and serum from patients with bipolar disorder and controls. 61
32066700 2020
24
Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer. 61
32091409 2020
25
FANCI Cooperates with IMPDH2 to Promote Lung Adenocarcinoma Tumor Growth via a MEK/ERK/MMPs Pathway. 61
32021289 2020
26
DNA methylation biomarkers for nasopharyngeal carcinoma. 61
32271791 2020
27
ATR-Mediated FANCI Phosphorylation Regulates Both Ubiquitination and Deubiquitination of FANCD2. 61
32117957 2020
28
In vivo analysis of FANCD2 recruitment at meiotic DNA breaks in Caenorhabditis elegans. 61
31919410 2020
29
MTDH/AEG-1 downregulation using pristimerin-loaded nanoparticles inhibits Fanconi anemia proteins and increases sensitivity to platinum-based chemotherapy. 61
31477281 2019
30
Structure of the Fanconi anaemia monoubiquitin ligase complex. 61
31666700 2019
31
Revisiting the Genomic and Transcriptomic Landscapes from Female Malignancies Could Provide Molecular Markers and Targets for Precision Medicine. 61
31783305 2019
32
Small-Molecule Inhibition of UBE2T/FANCL-Mediated Ubiquitylation in the Fanconi Anemia Pathway. 61
31525021 2019
33
FANCD2 Binding to H4K20me2 via a Methyl-Binding Domain Is Essential for Efficient DNA Cross-Link Repair. 61
31085681 2019
34
A Fanci knockout mouse model reveals common and distinct functions for FANCI and FANCD2. 61
31219578 2019
35
Efficacy of Radium-223 in Bone-metastatic Castration-resistant Prostate Cancer with and Without Homologous Repair Gene Defects. 61
30293905 2019
36
Phosphorylation of FANCD2 Inhibits the FANCD2/FANCI Complex and Suppresses the Fanconi Anemia Pathway in the Absence of DNA Damage. 61
31167143 2019
37
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing. 61
30303537 2019
38
USP1 (ubiquitin specific peptidase 1) targets ULK1 and regulates its cellular compartmentalization and autophagy. 61
30335599 2019
39
Deficiency of the Fanconi anemia E2 ubiqitin conjugase UBE2T only partially abrogates Alu-mediated recombination in a new model of homology dependent recombination. 61
30715513 2019
40
Genetic characterization of thymoma. 61
30787364 2019
41
FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat. 61
30358836 2019
42
High-risk human papillomavirus oncogenes disrupt the Fanconi anemia DNA repair pathway by impairing localization and de-ubiquitination of FancD2. 61
30818369 2019
43
Fanconi anemia protein FANCI functions in ribosome biogenesis. 61
30692263 2019
44
BRMS1 participates in regulating cell sensitivity to DNA interstrand crosslink damage by interacting with FANCI. 61
30365131 2019
45
The Interplay Between the DNA Damage Response, RNA Processing and Extracellular Vesicles. 61
32010626 2019
46
Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer. 61
31428572 2019
47
Identification of significant gene and pathways involved in HBV-related hepatocellular carcinoma by bioinformatics analysis. 61
31392101 2019
48
Enzymatic preparation of monoubiquitinated FANCD2 and FANCI proteins. 61
30850063 2019
49
Binding of FANCI-FANCD2 Complex to RNA and R-Loops Stimulates Robust FANCD2 Monoubiquitination. 61
30650351 2019
50
Integrative analysis with expanded DNA methylation data reveals common key regulators and pathways in cancers. 61
30729033 2019

Variations for Fanconi Anemia, Complementation Group I

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

6 (show top 50) (show all 155) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FANCI NM_001113378.1(FANCI):c.1461T>A (p.Tyr487Ter)SNV Pathogenic 408247 rs769248873 15:89824480-89824480 15:89281249-89281249
2 FANCI FANCI, 2T-CSNV Pathogenic 971
3 FANCI NM_018193.3(FANCI):c.3674G>A (p.Arg1225Gln)SNV Pathogenic 972 rs121918163 15:89858550-89858550 15:89315319-89315319
4 FANCI NM_018193.3(FANCI):c.3673C>T (p.Arg1225Ter)SNV Pathogenic 973 rs121918164 15:89858549-89858549 15:89315318-89315318
5 FANCI FANCI, IVS31AS, A-G, -88SNV Pathogenic 974
6 FANCI NM_001113378.1(FANCI):c.2422A>T (p.Lys808Ter)SNV Pathogenic/Likely pathogenic 208639 rs375656231 15:89837194-89837194 15:89293963-89293963
7 FANCI NM_001113378.1(FANCI):c.2509G>T (p.Glu837Ter)SNV Likely pathogenic 631743 rs748000458 15:89838198-89838198 15:89294967-89294967
8 FANCI NM_001113378.1(FANCI):c.3041G>A (p.Cys1014Tyr)SNV Likely pathogenic 631744 rs140404896 15:89847129-89847129 15:89303898-89303898
9 FANCI NM_001113378.1(FANCI):c.158-2A>GSNV Likely pathogenic 225355 rs762128147 15:89803942-89803942 15:89260711-89260711
10 FANCI NM_001113378.1(FANCI):c.753C>T (p.Asp251=)SNV Conflicting interpretations of pathogenicity 238330 rs151169233 15:89807836-89807836 15:89264605-89264605
11 FANCI NM_001113378.1(FANCI):c.1573A>G (p.Met525Val)SNV Conflicting interpretations of pathogenicity 238309 rs144908351 15:89825056-89825056 15:89281825-89281825
12 FANCI , POLG NM_002693.2(POLG):c.*49G>ASNV Conflicting interpretations of pathogenicity 317308 rs758880377 15:89859933-89859933 15:89316702-89316702
13 FANCI , POLG NM_002693.2(POLG):c.*30G>ASNV Conflicting interpretations of pathogenicity 317310 rs3087376 15:89859952-89859952 15:89316721-89316721
14 FANCI NM_001113378.1(FANCI):c.2646A>G (p.Leu882=)SNV Conflicting interpretations of pathogenicity 317287 rs199627578 15:89843040-89843040 15:89299809-89299809
15 FANCI NM_001113378.1(FANCI):c.2856T>A (p.Thr952=)SNV Conflicting interpretations of pathogenicity 317289 rs368915464 15:89843583-89843583 15:89300352-89300352
16 FANCI , POLG NM_002693.2(POLG):c.3644-16T>CSNV Conflicting interpretations of pathogenicity 317312 rs536522307 15:89860074-89860074 15:89316843-89316843
17 FANCI , POLG NM_002693.2(POLG):c.3644-72C>ASNV Conflicting interpretations of pathogenicity 317313 rs1801377 15:89860130-89860130 15:89316899-89316899
18 FANCI NM_001113378.1(FANCI):c.1176A>T (p.Ser392=)SNV Conflicting interpretations of pathogenicity 317272 rs201871288 15:89820005-89820005 15:89276774-89276774
19 FANCI NM_001113378.1(FANCI):c.1856T>A (p.Leu619Gln)SNV Conflicting interpretations of pathogenicity 317280 rs151038616 15:89833478-89833478 15:89290247-89290247
20 FANCI NM_001113378.1(FANCI):c.1111A>G (p.Ser371Gly)SNV Conflicting interpretations of pathogenicity 317269 rs149008055 15:89817534-89817534 15:89274303-89274303
21 FANCI , POLG NM_002693.2(POLG):c.3644-99C>TSNV Conflicting interpretations of pathogenicity 317314 rs3176241 15:89860157-89860157 15:89316926-89316926
22 FANCI NM_001113378.1(FANCI):c.1491A>G (p.Gln497=)SNV Conflicting interpretations of pathogenicity 317277 rs145349375 15:89824510-89824510 15:89281279-89281279
23 FANCI NM_001113378.1(FANCI):c.1963G>A (p.Gly655Arg)SNV Conflicting interpretations of pathogenicity 414868 rs138026584 15:89834916-89834916 15:89291685-89291685
24 FANCI NM_001113378.1(FANCI):c.3660T>C (p.Ser1220=)SNV Conflicting interpretations of pathogenicity 414872 rs116380142 15:89856143-89856143 15:89312912-89312912
25 FANCI NM_001113378.2(FANCI):c.1749T>C (p.Phe583=)SNV Conflicting interpretations of pathogenicity 695486 15:89828377-89828377 15:89285146-89285146
26 FANCI NM_001113378.2(FANCI):c.1398C>T (p.Ile466=)SNV Conflicting interpretations of pathogenicity 700621 15:89824417-89824417 15:89281186-89281186
27 FANCI NM_001113378.1(FANCI):c.158G>C (p.Gly53Ala)SNV Conflicting interpretations of pathogenicity 408254 rs149223439 15:89803944-89803944 15:89260713-89260713
28 FANCI NM_001113378.1(FANCI):c.2406T>C (p.Asp802=)SNV Conflicting interpretations of pathogenicity 414865 rs147934193 15:89837178-89837178 15:89293947-89293947
29 FANCI NM_001113378.1(FANCI):c.528A>G (p.Gln176=)SNV Conflicting interpretations of pathogenicity 408242 rs145939211 15:89806674-89806674 15:89263443-89263443
30 FANCI NM_001113378.1(FANCI):c.3652-10A>GSNV Conflicting interpretations of pathogenicity 526499 rs202231175 15:89856125-89856125 15:89312894-89312894
31 FANCI NM_001113378.1(FANCI):c.1703A>G (p.His568Arg)SNV Conflicting interpretations of pathogenicity 526471 rs555480773 15:89828331-89828331 15:89285100-89285100
32 FANCI NM_001113378.1(FANCI):c.1939T>C (p.Leu647=)SNV Conflicting interpretations of pathogenicity 526435 rs150231327 15:89834892-89834892 15:89291661-89291661
33 FANCI NM_001113378.1(FANCI):c.2487T>G (p.Leu829=)SNV Conflicting interpretations of pathogenicity 210986 rs145762491 15:89838176-89838176 15:89294945-89294945
34 FANCI NM_001113378.1(FANCI):c.3236C>T (p.Thr1079Met)SNV Conflicting interpretations of pathogenicity 238321 rs191202700 15:89848621-89848621 15:89305390-89305390
35 FANCI NM_001113378.2(FANCI):c.1718G>A (p.Ser573Asn)SNV Uncertain significance 884756 15:89828346-89828346 15:89285115-89285115
36 FANCI NM_001113378.2(FANCI):c.1849T>C (p.Ser617Pro)SNV Uncertain significance 885699 15:89833471-89833471 15:89290240-89290240
37 FANCI NM_001113378.2(FANCI):c.2054T>C (p.Leu685Ser)SNV Uncertain significance 886709 15:89835980-89835980 15:89292749-89292749
38 FANCI NM_001113378.2(FANCI):c.2185T>A (p.Phe729Ile)SNV Uncertain significance 887962 15:89836188-89836188 15:89292957-89292957
39 FANCI NM_001113378.2(FANCI):c.2589T>A (p.Asp863Glu)SNV Uncertain significance 884820 15:89838278-89838278 15:89295047-89295047
40 FANCI NM_001113378.2(FANCI):c.2685G>A (p.Ser895=)SNV Uncertain significance 884821 15:89843079-89843079 15:89299848-89299848
41 FANCI NM_001113378.2(FANCI):c.2878C>T (p.Arg960Trp)SNV Uncertain significance 885754 15:89843605-89843605 15:89300374-89300374
42 FANCI NM_001113378.2(FANCI):c.2977T>A (p.Ser993Thr)SNV Uncertain significance 885755 15:89844644-89844644 15:89301413-89301413
43 FANCI NM_001113378.2(FANCI):c.3162C>T (p.His1054=)SNV Uncertain significance 886756 15:89848449-89848449 15:89305218-89305218
44 FANCI NM_001113378.2(FANCI):c.3277G>A (p.Glu1093Lys)SNV Uncertain significance 886757 15:89848857-89848857 15:89305626-89305626
45 FANCI NM_001113378.2(FANCI):c.3443T>G (p.Leu1148Arg)SNV Uncertain significance 886758 15:89849331-89849331 15:89306100-89306100
46 FANCI NM_001113378.2(FANCI):c.3537T>C (p.Tyr1179=)SNV Uncertain significance 888030 15:89849425-89849425 15:89306194-89306194
47 FANCI NM_001113378.2(FANCI):c.3589C>G (p.Leu1197Val)SNV Uncertain significance 888031 15:89850758-89850758 15:89307527-89307527
48 FANCI NM_001113378.2(FANCI):c.3651G>A (p.Gln1217=)SNV Uncertain significance 888033 15:89850903-89850903 15:89307672-89307672
49 FANCI NM_001113378.2(FANCI):c.3687A>G (p.Lys1229=)SNV Uncertain significance 884904 15:89856170-89856170 15:89312939-89312939
50 FANCI NM_001113378.2(FANCI):c.3718A>G (p.Met1240Val)SNV Uncertain significance 884905 15:89856201-89856201 15:89312970-89312970

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

73
# 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
12.7 USP1 FANCM FANCI FANCF FANCD2 FANCA
2
Show member pathways
12.41 POLG FANCF FANCD2 FANCA ATR
3 12.19 USP1 POLG FANCD2 FANCA ATR
4
Show member pathways
11.48 FANCF FANCD2 FANCA ATR
5 11.33 USP1 FANCM FANCI FANCF FANCD2 FANCA
6 11.19 USP1 FANCD2 ATR
7 10.92 FANCF FANCD2 FANCA 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 9.97 USP1 H2AC18 FANCM FANCI FANCF FANCD2
2 nucleoplasm GO:0005654 9.73 USP1 FANCM FANCI FANCF FANCD2 FANCA
3 Fanconi anaemia nuclear complex GO:0043240 9.1 FANCM FANCF FANCA FAAP24 FAAP20 FAAP100

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 9.9 USP1 FANCM FANCI FANCF FANCD2 FANCA
2 DNA repair GO:0006281 9.7 USP1 FANCM FANCI FANCF FANCD2 FANCA
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.54 POLG FANCM FAN1
4 regulation of DNA-binding transcription factor activity GO:0051090 9.43 FANCD2 FANCA
5 response to gamma radiation GO:0010332 9.4 POLG FANCD2
6 cellular response to DNA damage stimulus GO:0006974 9.4 USP1 FANCM FANCI FANCF FANCD2 FANCA
7 regulation of regulatory T cell differentiation GO:0045589 9.32 FANCD2 FANCA
8 regulation of CD40 signaling pathway GO:2000348 9.26 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 10.07 USP1 POLG FANCM FANCI FANCF FANCD2
2 DNA binding GO:0003677 9.56 POLG H2AC18 FANCM FANCI FAN1 FAAP24
3 DNA polymerase binding GO:0070182 9.16 FANCI FANCD2
4 ubiquitin-dependent protein binding GO:0140036 8.62 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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