FANCL
MCID: FNC028
MIFTS: 49

Fanconi Anemia, Complementation Group L (FANCL)

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 L

MalaCards integrated aliases for Fanconi Anemia, Complementation Group L:

Name: Fanconi Anemia, Complementation Group L 56 29 13 6 39 71
Fanconi Anemia Complementation Group L 12 73 15
Fancl 56 12 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
four unrelated patients have been reported (last curated september 2015)
two unrelated patients had multiple congenital anomalies and died in early infancy


HPO:

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


Classifications:



Summaries for Fanconi Anemia, Complementation Group L

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. (614083)

MalaCards based summary : Fanconi Anemia, Complementation Group L, also known as fanconi anemia complementation group l, is related to fanconi anemia, complementation group a and fanconi anemia, complementation group b. An important gene associated with Fanconi Anemia, Complementation Group L is FANCL (FA Complementation Group L), and among its related pathways/superpathways are DNA damage_ATM/ATR regulation of G1/S checkpoint and Fanconi anemia pathway. The drugs Talazoparib and Olaparib have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and breast, and related phenotypes are depressed nasal bridge and hypertelorism

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16.

UniProtKB/Swiss-Prot : 73 Fanconi anemia complementation group L: 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 L

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 L via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group a 32.8 VRK2 UBE2T FANCL FANCD2
2 fanconi anemia, complementation group b 32.3 FANCL FANCD2
3 fanconi anemia, complementation group c 32.2 FANCL FANCD2
4 fanconi anemia, complementation group u 32.1 UBE2T FANCL FANCD2
5 fanconi anemia, complementation group j 32.0 FANCL FANCD2
6 fanconi anemia, complementation group t 32.0 UBE2T FANCL FANCD2
7 fanconi anemia, complementation group d1 32.0 UBE2T FANCL FANCD2
8 fanconi anemia, complementation group n 32.0 UBE2T FANCL FANCD2
9 fanconi anemia, complementation group p 31.7 FANCL FANCD2
10 fanconi anemia, complementation group v 31.6 UBE2T FANCL FANCD2
11 fanconi anemia, complementation group r 31.6 UBE2T FANCL FANCD2
12 fanconi anemia, complementation group o 31.5 UBE2T FANCL FANCD2
13 esophageal atresia 31.5 FANCL FANCD2
14 fanconi anemia, complementation group q 31.5 UBE2T FANCL FANCD2
15 vacterl association 11.6
16 squamous cell carcinoma, head and neck 11.2
17 xeroderma pigmentosum, variant type 11.2
18 orofacial cleft 11.1
19 bartholin's gland carcinoma 11.1
20 bartholin's gland disease 11.1
21 bartholin's gland adenocarcinoma 11.1
22 fanconi anemia, complementation group d2 10.7
23 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.5
24 fanconi anemia, complementation group i 10.5
25 deficiency anemia 10.5
26 aplastic anemia 10.2
27 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.2
28 autosomal recessive disease 10.2
29 breast cancer 10.1
30 fanconi anemia, complementation group e 10.1
31 cervical cancer 10.1
32 allergic hypersensitivity disease 10.1
33 myeloid leukemia 10.1
34 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 10.1

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



Diseases related to Fanconi Anemia, Complementation Group L

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group L

Human phenotypes related to Fanconi Anemia, Complementation Group L:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 depressed nasal bridge 31 occasional (7.5%) HP:0005280
2 hypertelorism 31 occasional (7.5%) HP:0000316
3 short neck 31 occasional (7.5%) HP:0000470
4 wide nasal bridge 31 occasional (7.5%) HP:0000431
5 abnormal facial shape 31 occasional (7.5%) HP:0001999
6 microtia 31 occasional (7.5%) HP:0008551
7 hydrocephalus 31 occasional (7.5%) HP:0000238
8 cleft palate 31 occasional (7.5%) HP:0000175
9 tracheoesophageal fistula 31 occasional (7.5%) HP:0002575
10 intrauterine growth retardation 31 occasional (7.5%) HP:0001511
11 anal atresia 31 occasional (7.5%) HP:0002023
12 micropenis 31 occasional (7.5%) HP:0000054
13 microphthalmia 31 occasional (7.5%) HP:0000568
14 renal hypoplasia 31 occasional (7.5%) HP:0000089
15 esophageal atresia 31 occasional (7.5%) HP:0002032
16 bone marrow hypocellularity 31 occasional (7.5%) HP:0005528
17 absent thumb 31 occasional (7.5%) HP:0009777
18 global developmental delay 31 HP:0001263
19 anemia 31 HP:0001903
20 cafe-au-lait spot 31 HP:0000957
21 chromosome breakage 31 HP:0040012

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
microphthalmia (in some patients)
hypertelorism (in some patients)

Head And Neck Neck:
short neck (in some patients)

Laboratory Abnormalities:
increased chromosomal breakage

Head And Neck Face:
dysmorphic facial features (in some patients)

Respiratory Airways:
tracheoesophageal fistula (in some patients)

Genitourinary Kidneys:
renal hypoplasia (in some patients)

Growth Other:
intrauterine growth retardation (in some patients)

Cardiovascular Heart:
cardiac malformations (in some patients)

Skeletal Limbs:
radial ray defects (in some patients)

Head And Neck Mouth:
cleft palate (in some patients)

Hematology:
bone marrow failure (in some patients)

Neurologic Central Nervous System:
developmental delay (in some patients)
hydrocephalus (in some patients)

Genitourinary External Genitalia Male:
micropenis (in some patients)

Abdomen Gastrointestinal:
esophageal atresia (in some patients)
anal atresia (in some patients)

Head And Neck Ears:
microtia (in some patients)

Head And Neck Nose:
depressed nasal root (in some patients)
broad nasal root (in some patients)

Skeletal Spine:
vertebral abnormalities (in some patients)

Skeletal Hands:
absent thumbs (in some patients)

Clinical features from OMIM:

614083

Drugs & Therapeutics for Fanconi Anemia, Complementation Group L

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Talazoparib Approved, Investigational Phase 2 1207456-01-6 135565082
2
Olaparib Approved Phase 2 763113-22-0 23725625
3
Iron Approved, Experimental Phase 2 15438-31-0, 7439-89-6 27284 23925
4
Mannitol Approved, Investigational Phase 2 69-65-8 6251 453
5
Titanium dioxide Approved Phase 2 13463-67-7
6
Silicon Approved, Investigational Phase 2 7440-21-3 4082203
7
Bevacizumab Approved, Investigational Phase 2 216974-75-3
8
Irinotecan Approved, Investigational Phase 2 97682-44-5, 100286-90-6 60838
9 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
10 Ferrosoferric Oxide Phase 2
11 topoisomerase I inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II Clinical Trial of the PARP Inhibitor Talazoparib in BRCA1 and BRCA2 Wild Type Patients With Advanced Triple Negative Breast Cancer and Homologous Recombination Deficiency or Advanced HER2 Negative Breast Cancer or Other Solid Tumors With a Mutation in Homologous Recombination Pathway Genes Recruiting NCT02401347 Phase 2 Talazoparib Tosylate
2 Phase II Study of Olaparib in Metastatic Renal Cell Carcinoma Patients Harboring a BAP-1 or Other DNA Repair Gene Mutations (ORCHID) Recruiting NCT03786796 Phase 2 Olaparib
3 Phase II Study of Olaparib in Men With High-Risk Biochemically-Recurrent Prostate Cancer Following Radical Prostatectomy, With Integrated Biomarker Analysis Recruiting NCT03047135 Phase 2 Olaparib
4 A Phase 2 Single-Arm Study of M6620 in Combination With Irinotecan in Patients With Progressive TP53 Mutant Gastric and Gastro-Esophageal Junction Cancer Not yet recruiting NCT03641313 Phase 2 Berzosertib;Irinotecan
5 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 L

Genetic Tests for Fanconi Anemia, Complementation Group L

Genetic tests related to Fanconi Anemia, Complementation Group L:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group L 29 FANCL

Anatomical Context for Fanconi Anemia, Complementation Group L

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

40
Bone, Bone Marrow, Breast, Prostate, Lung, Testes, Ovary

Publications for Fanconi Anemia, Complementation Group L

Articles related to Fanconi Anemia, Complementation Group L:

(show top 50) (show all 130)
# Title Authors PMID Year
1
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. 6 56 61
25754594 2015
2
Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. 61 56 6
19405097 2009
3
A novel ubiquitin ligase is deficient in Fanconi anemia. 56 6 61
12973351 2003
4
Fanconi anemia: at the crossroads of DNA repair. 56
21568838 2011
5
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
6
Esophageal Atresia / Tracheoesophageal Fistula Overview 6
20301753 2009
7
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
8
Fanconi Anemia 6
20301575 2002
9
Characterization of FANCL variants observed in patient cancer cells. 61
32420600 2020
10
FANCL gene mutations in premature ovarian insufficiency. 61
32048394 2020
11
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. 61
32235514 2020
12
Allosteric mechanism for site-specific ubiquitination of FANCD2. 61
31873223 2020
13
Dataset of allele and genotype frequencies of five polymorphisms candidate genes analyzed for association with body mass index in Russian women. 61
31890803 2020
14
Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer. 61
32091409 2020
15
A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India. 61
31513304 2020
16
Analysis of polymorphisms in genes associated with the FA/BRCA pathway in three patients with multiple primary malignant neoplasms. 61
30942098 2019
17
Structure of the Fanconi anaemia monoubiquitin ligase complex. 61
31666700 2019
18
Small-Molecule Inhibition of UBE2T/FANCL-Mediated Ubiquitylation in the Fanconi Anemia Pathway. 61
31525021 2019
19
Efficacy of Radium-223 in Bone-metastatic Castration-resistant Prostate Cancer with and Without Homologous Repair Gene Defects. 61
30293905 2019
20
Prevalence of DNA repair gene mutations in localized prostate cancer according to clinical and pathologic features: association of Gleason score and tumor stage. 61
30171229 2019
21
CCNE1 amplification is associated with poor prognosis in patients with triple negative breast cancer. 61
30665374 2019
22
Genomic alterations important for the prognosis in patients with follicular lymphoma treated in SWOG study S0016. 61
30446494 2019
23
The Interplay Between the DNA Damage Response, RNA Processing and Extracellular Vesicles. 61
32010626 2019
24
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility. 61
30540754 2018
25
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. 61
30306255 2018
26
Roles of Figla/figla in Juvenile Ovary Development and Follicle Formation During Zebrafish Gonadogenesis. 61
30184072 2018
27
Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability. 61
30122582 2018
28
Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer. 61
29335925 2018
29
Somatic mutations in early onset luminal breast cancer. 61
29854292 2018
30
Case study: patient-derived clear cell adenocarcinoma xenograft model longitudinally predicts treatment response. 61
30202792 2018
31
The HEM Lines: A New Library of Homozygous Arabidopsis thaliana EMS Mutants and its Potential to Detect Meiotic Phenotypes. 61
30283471 2018
32
Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution. 61
29220676 2017
33
Constitutive role of the Fanconi anemia D2 gene in the replication stress response. 61
29021208 2017
34
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50. 61
28678401 2017
35
Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene. 61
28881617 2017
36
Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia. 61
28419882 2017
37
Arsenite Binds to the RING Finger Domain of FANCL E3 Ubiquitin Ligase and Inhibits DNA Interstrand Crosslink Repair. 61
28535027 2017
38
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer. 61
28050010 2017
39
Selective cytotoxicity of the anti-diabetic drug, metformin, in glucose-deprived chicken DT40 cells. 61
28926637 2017
40
The FA Core Complex Contains a Homo-dimeric Catalytic Module for the Symmetric Mono-ubiquitination of FANCI-FANCD2. 61
27986592 2017
41
Mechanism of Ubiquitination and Deubiquitination in the Fanconi Anemia Pathway. 61
27986371 2017
42
The functional status of DNA repair pathways determines the sensitization effect to cisplatin in non-small cell lung cancer cells. 61
27473273 2016
43
Whole-exome and transcriptome sequencing of refractory diffuse large B-cell lymphoma. 61
27835906 2016
44
Leukemic survival factor SALL4 contributes to defective DNA damage repair. 61
27132514 2016
45
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 61
26822949 2016
46
Frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk. 61
27506598 2016
47
RE: frameshift variant FANCL*c.1096_1099dupATTA is not associated with high breast cancer risk. 61
27659787 2016
48
Mutations of myelodysplastic syndromes (MDS): An update. 61
27543316 2016
49
Fanconi Anemia Proteins Function in Mitophagy and Immunity. 61
27133164 2016
50
Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer. 61
27084275 2016

Variations for Fanconi Anemia, Complementation Group L

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

6 (show top 50) (show all 53) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FANCL NM_018062.3(FANCL):c.822-15_822-9delins177indel Pathogenic 2535 2:58390091-58390097 2:58162956-58162962
2 FANCL FANCL, 3-BP DEL, 1007TATdeletion Pathogenic 30701
3 FANCL FANCL, 4-BP DUP, 1095AATTduplication Pathogenic 30702
4 FANCL NM_001114636.1(FANCL):c.268del (p.Leu90fs)deletion Pathogenic 209076 rs869320684 2:58453868-58453868 2:58226733-58226733
5 FANCL NM_001114636.1(FANCL):c.430del (p.Ser144fs)deletion Pathogenic 209077 rs869320685 2:58431306-58431306 2:58204171-58204171
6 FANCL NM_018062.4(FANCL):c.1048_1051del (p.Gln350fs)deletion Likely pathogenic 810845 2:58387284-58387287 2:58160149-58160152
7 FANCL NM_018062.4(FANCL):c.739dup (p.Met247fs)duplication Likely pathogenic 810846 2:58390604-58390605 2:58163469-58163470
8 FANCL NM_001114636.1(FANCL):c.273+7A>CSNV Conflicting interpretations of pathogenicity 414856 rs745366278 2:58453856-58453856 2:58226721-58226721
9 FANCL NM_001114636.1(FANCL):c.534A>G (p.Thr178=)SNV Conflicting interpretations of pathogenicity 414860 rs151181785 2:58425735-58425735 2:58198600-58198600
10 FANCL NM_001114636.1(FANCL):c.203G>C (p.Arg68Pro)SNV Conflicting interpretations of pathogenicity 456243 rs143819820 2:58456962-58456962 2:58229827-58229827
11 FANCL NM_001114636.1(FANCL):c.1022_1024del (p.Ile341_Cys342delinsSer)deletion Conflicting interpretations of pathogenicity 241247 rs747253294 2:58388668-58388670 2:58161533-58161535
12 FANCL NM_001114636.1(FANCL):c.984G>A (p.Val328=)SNV Conflicting interpretations of pathogenicity 336653 rs200819615 2:58388708-58388708 2:58161573-58161573
13 FANCL NM_001114636.1(FANCL):c.947dup (p.Tyr316Ter)duplication Uncertain significance 336654 rs529201454 2:58388744-58388745 2:58161609-58161610
14 FANCL NM_001114636.1(FANCL):c.-40C>ASNV Uncertain significance 336658 rs199661008 2:58468488-58468488 2:58241353-58241353
15 FANCL NM_001114636.1(FANCL):c.-44C>TSNV Uncertain significance 336659 rs780348127 2:58468492-58468492 2:58241357-58241357
16 FANCL NM_001114636.1(FANCL):c.*165A>GSNV Uncertain significance 336652 rs866675905 2:58386735-58386735 2:58159600-58159600
17 FANCL NM_001114636.1(FANCL):c.-13C>TSNV Uncertain significance 336656 rs757714548 2:58468461-58468461 2:58241326-58241326
18 FANCL NM_001114636.1(FANCL):c.4G>T (p.Ala2Ser)SNV Uncertain significance 241251 rs144057264 2:58468445-58468445 2:58241310-58241310
19 FANCL NM_001114636.1(FANCL):c.-39A>CSNV Uncertain significance 336657 rs41281511 2:58468487-58468487 2:58241352-58241352
20 FANCL NM_001114636.1(FANCL):c.*296C>TSNV Uncertain significance 336651 rs201610023 2:58386604-58386604 2:58159469-58159469
21 FANCL NM_018062.4(FANCL):c.*89C>TSNV Uncertain significance 896729 2:58386811-58386811 2:58159676-58159676
22 FANCL NM_018062.4(FANCL):c.856G>T (p.Asp286Tyr)SNV Uncertain significance 897198 2:58390048-58390048 2:58162913-58162913
23 FANCL NM_018062.4(FANCL):c.795T>C (p.Ile265=)SNV Uncertain significance 897199 2:58390190-58390190 2:58163055-58163055
24 FANCL NM_018062.4(FANCL):c.677G>A (p.Arg226His)SNV Uncertain significance 897200 2:58392873-58392873 2:58165738-58165738
25 FANCL NM_018062.4(FANCL):c.533C>A (p.Thr178Lys)SNV Uncertain significance 898371 2:58425736-58425736 2:58198601-58198601
26 FANCL NM_018062.4(FANCL):c.524C>T (p.Ala175Val)SNV Uncertain significance 898372 2:58425745-58425745 2:58198610-58198610
27 FANCL NM_018062.4(FANCL):c.493T>G (p.Tyr165Asp)SNV Uncertain significance 898373 2:58425776-58425776 2:58198641-58198641
28 FANCL NM_018062.4(FANCL):c.436A>G (p.Arg146Gly)SNV Uncertain significance 898374 2:58431300-58431300 2:58204165-58204165
29 FANCL NM_018062.4(FANCL):c.5C>T (p.Ala2Val)SNV Uncertain significance 895387 2:58468444-58468444 2:58241309-58241309
30 FANCL NM_001114636.1(FANCL):c.-26T>ASNV Uncertain significance 896787 2:58468474-58468474 2:58241339-58241339
31 FANCL NM_001114636.1(FANCL):c.-34T>CSNV Uncertain significance 896788 2:58468482-58468482 2:58241347-58241347
32 FANCL NM_001114636.1(FANCL):c.-35C>TSNV Uncertain significance 896789 2:58468483-58468483 2:58241348-58241348
33 FANCL NM_001114636.1(FANCL):c.637G>A (p.Asp213Asn)SNV Uncertain significance 526332 rs199564543 2:58392928-58392928 2:58165793-58165793
34 FANCL NM_001114636.1(FANCL):c.563_565TAA[1] (p.Ile189del)short repeat Uncertain significance 625940 2:58392997-58392999 2:58165862-58165864
35 FANCL NM_001114636.1(FANCL):c.147_148delinsTT (p.Lys49_Asn50delinsAsnTyr)indel Uncertain significance 625941 rs1558825558 2:58459196-58459197 2:58232061-58232062
36 FANCL NM_001114636.1(FANCL):c.238C>G (p.Leu80Val)SNV Uncertain significance 408230 rs563513081 2:58453898-58453898 2:58226763-58226763
37 FANCL NM_018062.4(FANCL):c.378T>A (p.Leu126=)SNV Uncertain significance 837030 2:58431358-58431358 2:58204223-58204223
38 FANCL NM_018062.4(FANCL):c.*515A>CSNV Uncertain significance 895307 2:58386385-58386385 2:58159250-58159250
39 FANCL NM_018062.4(FANCL):c.*434A>GSNV Uncertain significance 895308 2:58386466-58386466 2:58159331-58159331
40 FANCL NM_018062.4(FANCL):c.*281C>GSNV Uncertain significance 896725 2:58386619-58386619 2:58159484-58159484
41 FANCL NM_018062.4(FANCL):c.*165A>CSNV Uncertain significance 896726 2:58386735-58386735 2:58159600-58159600
42 FANCL NM_018062.4(FANCL):c.*128G>ASNV Uncertain significance 896727 2:58386772-58386772 2:58159637-58159637
43 FANCL NM_001114636.1(FANCL):c.*333A>GSNV Likely benign 336650 rs147811379 2:58386567-58386567 2:58159432-58159432
44 FANCL NM_001114636.1(FANCL):c.832T>C (p.Leu278=)SNV Benign/Likely benign 414854 rs61753272 2:58390168-58390168 2:58163033-58163033
45 FANCL NM_001114636.1(FANCL):c.108C>G (p.Phe36Leu)SNV Benign/Likely benign 414861 rs149726602 2:58459236-58459236 2:58232101-58232101
46 FANCL NM_001114636.1(FANCL):c.685A>G (p.Thr229Ala)SNV Benign/Likely benign 241252 rs149731356 2:58392880-58392880 2:58165745-58165745
47 FANCL NM_001114636.1(FANCL):c.770T>G (p.Phe257Cys)SNV Benign/Likely benign 220759 rs139801716 2:58390589-58390589 2:58163454-58163454
48 FANCL NM_001114636.1(FANCL):c.112C>T (p.Leu38Phe)SNV Benign/Likely benign 221092 rs55849827 2:58459232-58459232 2:58232097-58232097
49 FANCL NM_001114636.1(FANCL):c.1092T>C (p.Cys364=)SNV Benign 221091 rs11539575 2:58387258-58387258 2:58160123-58160123
50 FANCL NM_018062.4(FANCL):c.*95A>GSNV Benign 896728 2:58386805-58386805 2:58159670-58159670

Expression for Fanconi Anemia, Complementation Group L

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

Pathways for Fanconi Anemia, Complementation Group L

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

# Super pathways Score Top Affiliating Genes
1 10.9 FANCL FANCD2
2 10.77 UBE2T FANCL FANCD2
3 10.62 UBE2W UBE2T
4 10.42 FANCL FANCD2

GO Terms for Fanconi Anemia, Complementation Group L

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.61 VRK2 UBE2W UBE2T TOR1AIP2 SERTAD3 RMND5A
2 nuclear envelope GO:0005635 8.8 VRK2 NUP43 FANCL

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.62 UBE2W UBE2T FANCL FANCD2
2 protein polyubiquitination GO:0000209 9.58 UBE2W UBE2T RMND5A
3 DNA repair GO:0006281 9.46 UBE2W UBE2T FANCL FANCD2
4 protein K11-linked ubiquitination GO:0070979 9.37 UBE2W UBE2T
5 gamete generation GO:0007276 9.26 FANCL FANCD2
6 interstrand cross-link repair GO:0036297 9.13 UBE2T FANCL FANCD2
7 protein monoubiquitination GO:0006513 8.8 UBE2W UBE2T FANCL

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 9.33 UBE2W UBE2T FANCL
2 ubiquitin conjugating enzyme activity GO:0061631 8.96 UBE2W UBE2T
3 ubiquitin-protein transferase activity GO:0004842 8.92 UBE2W UBE2T RMND5A FANCL

Sources for Fanconi Anemia, Complementation Group L

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
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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