Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55215
Gene name Gene Name - the full gene name approved by the HGNC.	FA complementation group I
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FANCI
Synonyms (NCBI Gene) Gene synonyms aliases	KIAA1794
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q26.1
Summary Summary of gene provided in NCBI Entrez Gene.	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FAN

Show/Hide all(18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918163	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918164	C>T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained
rs140404896	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs144908351	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs375656231	A>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs748000458	G>T	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs758597713	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs762128147	A>G	Likely-pathogenic	Splice acceptor variant
rs769248873	T>A	Pathogenic	Stop gained, coding sequence variant
rs770318990	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs864622739	G>A	Likely-pathogenic	Splice donor variant
rs878854181	G>A	Pathogenic	Coding sequence variant, stop gained
rs1060501900	T>A	Pathogenic	Stop gained, coding sequence variant
rs1567142658	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1567179036	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596318782	TCCTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596324325	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596336945	->GAAC	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(30)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016311	hsa-miR-193b-3p	Microarray	20304954
MIRT023519	hsa-miR-1-3p	Proteomics	18668040
MIRT026117	hsa-miR-192-5p	Microarray	19074876
MIRT030685	hsa-miR-21-5p	Microarray	18591254
MIRT051849	hsa-let-7c-5p	CLASH	23622248
MIRT041018	hsa-miR-505-3p	CLASH	23622248
MIRT989188	hsa-miR-1237	CLIP-seq
MIRT989189	hsa-miR-1248	CLIP-seq
MIRT989190	hsa-miR-3138	CLIP-seq
MIRT989191	hsa-miR-3911	CLIP-seq
MIRT989192	hsa-miR-4325	CLIP-seq
MIRT989193	hsa-miR-4480	CLIP-seq
MIRT989194	hsa-miR-4699-5p	CLIP-seq
MIRT989195	hsa-miR-4722-3p	CLIP-seq
MIRT989196	hsa-miR-4800-5p	CLIP-seq
MIRT989197	hsa-miR-507	CLIP-seq
MIRT989198	hsa-miR-557	CLIP-seq
MIRT2227025	hsa-miR-1256	CLIP-seq
MIRT989192	hsa-miR-4325	CLIP-seq
MIRT2227026	hsa-miR-4436a	CLIP-seq
MIRT2227027	hsa-miR-4688	CLIP-seq
MIRT2227028	hsa-miR-4700-3p	CLIP-seq
MIRT989197	hsa-miR-507	CLIP-seq
MIRT989198	hsa-miR-557	CLIP-seq
MIRT2530834	hsa-miR-1178	CLIP-seq
MIRT2530835	hsa-miR-3121-5p	CLIP-seq
MIRT2530836	hsa-miR-3670	CLIP-seq
MIRT2530837	hsa-miR-4264	CLIP-seq
MIRT2530838	hsa-miR-4303	CLIP-seq
MIRT2530839	hsa-miR-4797-3p	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	NAS	19965384
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	17460694, 20603015, 31240132
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	18445686
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	18029348
GO:0036297	Process	Interstrand cross-link repair	NAS	19965384
GO:0070182	Function	DNA polymerase binding	IBA
GO:0070182	Function	DNA polymerase binding	IPI	19995904
GO:1990391	Component	DNA repair complex	IPI	32269332

MIM	HGNC	e!Ensembl
611360	25568	ENSG00000140525

Protein

UniProt ID

Q9NVI1

Protein name

Fanconi anemia group I protein (Protein FACI)

Protein function

Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair

PDB

6VAA , 6VAD , 6VAE , 6VAF , 7AY1 , 7ZF1 , 8A9J , 8A9K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14674	FANCI_S1-cap	1 → 53	FANCI solenoid 1 cap	Family
PF14675	FANCI_S1	62 → 280	FANCI solenoid 1	Family
PF14679	FANCI_HD1	284 → 370	FANCI helical domain 1	Family
PF14676	FANCI_S2	378 → 541	FANCI solenoid 2	Family
PF14680	FANCI_HD2	555 → 786	FANCI helical domain 2	Family
PF14677	FANCI_S3	804 → 1032	FANCI solenoid 3	Family
PF14678	FANCI_S4	1045 → 1296	FANCI solenoid 4	Family

Sequence

MDQKILSLAAEKTADKLQEFLQTLREGDLTNLLQNQAVKGKVAGALLRAIFKGSPCSEEA
GTLRRRKIYTCCIQLVESGDLQKEIASEIIGLLMLEAHHFPGPLLVELANEFISAVREGS
LVNGKSLELLPIILTALATKKENLAYGKGVLSGEECKKQLINTLCSGRWDQQYVIQLTSM
FKDVPLTAEEVEFVVEKALSMFSKMNLQEIPPLVYQLLVLSSKGSRKSVLEGIIAFFSAL
DKQHNEEQSGDELLDVVTVPSGELRHVEGTIILHIVFAIKLDYELGRELVKHLKVGQQGD
SNNNLSPFSIALLLSVTRIQRFQDQVLDLLKTSVVKSFKDLQLLQGSKFLQNLVPHRSYV
STMILEVVKNSVHSWDHVTQGLVELGFILMDSYGPKKVLDGKTIETSPSLSRMPNQHACK
LGANILLETFKIHEMIRQEILEQVLNRVVTRASSPISHFLDLLSNIVMYAPLVLQSCSSK
VTEAFDYLSFLPLQTVQRLLKAVQPLLKVSMSMRDCLILVLRKAMFANQLDARKSAVAGF
LLLLKNFKVLGSLSSSQCSQSLSVSQVHVDVHSHYNSVANETFCLEIMDSLRRCLSQQAD
VRLMLYEGFYDVLRRNSQLANSVMQTLLSQLKQFYEPKPDLLPPLKLEACILTQGDKISL
QEPLDYLLCCIQHCLAWYKNTVIPLQQGEEEEEEEEAFYEDLDDILESITNRMIKSELED
FELDKSADFSQSTSIGIKNNICAFLVMGVCEVLIEYNFSISSFSKNRFEDILSLFMCYKK
LSDILNEKAGKAKTKMANKTSDSLLSMKFVSSLLTALFRDSIQSHQESLSVLRSSNEFMR
YAVNVALQKVQQLKETGHVSGPDGQNPEKIFQNLCDITRVLLWRYTSIPTSVEESGKKEK
GKSISLLCLEGLQKIFSAVQQFYQPKIQQFLRALDVTDKEGEEREDADVSVTQRTAFQIR
QFQRSLLNLLSSQEEDFNSKEALLLVTVLTSLSKLLEPSSPQFVQMLSWTSKICKENSRE
DALFCKSLMNLLFSLHVSYKSPVILLRDLSQDIHGHLGDIDQDVEVEKTNHFAIVNLRTA
APTVCLLVLSQAEKVLEEVDWLITKLKGQVSQETLSEEASSQATLPNQPVEKAIIMQLGT
LLTFFHELVQTALPSGSCVDTLLKDLCKMYTTLTALVRYYLQVCQSSGGIPKNMEKLVKL
SGSHLTPLCYSFISYVQNKSKSLNYTGEKKEKPAAVATAMARVLRETKPIPNLIFAIEQY
EKFLIHLSKKSKVNLMQHMKLSTSRDFKIKGNILDMVLREDGEDENEEGTASEHGGQNKE
PAKKKRKK

Sequence length

1328

Interactions

View interactions

	KEGG		Reactome
	Fanconi anemia pathway		Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Fanconi Anemia	Fanconi anemia complementation group I, fanconi anemia, Fanconi anemia complementation group A	rs748000458, rs1407605188, rs760412752, rs121918164, rs758597713, rs140404896, rs375656231, rs769248873, rs1596318782, rs1596336945, rs770318990, rs1060501900, rs1596324325, rs1567179036, rs864622739 View all (5 more)	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast Cancer	Malignant tumor of breast	N/A	N/A	ClinVar
colorectal cancer	Colorectal cancer	N/A	N/A	ClinVar
Immunodeficiency	Immunodeficiency 62	N/A	N/A	ClinVar
Insomnia	Insomnia	N/A	N/A	GWAS
Microcephaly	microcephaly	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	38200551
Anemia Hemolytic	Associate	26798408, 27405460, 32269332, 36385258
Breast Neoplasms	Associate	30303537, 37290137
Carcinoma Hepatocellular	Associate	37324186
Carcinoma Mucoepidermoid	Associate	33832503
Carcinoma Non Small Cell Lung	Associate	35703356
Carcinoma Renal Cell	Associate	34512202
Colonic Neoplasms	Associate	35392038
Colorectal Neoplasms	Associate	37945594
Dissection Thoracic Aorta	Associate	31380418
Fanconi Anemia	Associate	14630800, 18174376, 18448394, 20971953, 21355096, 21685936, 22987153, 23620800, 23993743, 25557546, 25659033, 25862789, 26119737, 26590883, 27277787 View all (14 more)
Fanconi Anemia	Stimulate	29059323
Focal cortical dysplasia of Taylor	Stimulate	35112146
Genetic Diseases Inborn	Associate	29659569
Hepatitis B	Stimulate	37324186
Hereditary Breast and Ovarian Cancer Syndrome	Associate	30306255
Hypoxia Brain	Associate	24688021
Leukemia Myeloid Acute	Associate	32868804
Melanoma Cutaneous Malignant	Associate	38077326
Nasopharyngeal Carcinoma	Associate	32271791
Neoplasm Metastasis	Associate	38077326
Neoplasms	Inhibit	25557546
Neoplasms	Associate	26824983, 27986371, 28878254, 29659569, 32167469, 32269332, 32902196, 34573422, 34861889, 35703356, 36761744, 37324186, 38200551
Ovarian Neoplasms	Associate	29452344, 34861889, 36833203
Prostatic Neoplasms	Associate	29659569, 36095024
Recombinant chromosome 8 syndrome	Associate	30293905
Sarcoma	Associate	28878254
Stomach Neoplasms	Associate	32902196
Thymoma	Associate	30787364
Triple Negative Breast Neoplasms	Associate	26824983, 29452344
Urinary Bladder Neoplasms	Associate	36761744
Uterine Cervical Neoplasms	Associate	33436409
VACTERL association	Associate	26590883

FANCI (FA complementation group I)