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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55215
Gene name	FA complementation group I
Gene symbol	FANCI
Synonyms (NCBI Gene)	KIAA1794
Chromosome	15
Chromosome location	15q26.1
Summary	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

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

2440

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Colorectal cancer	Likely pathogenic	rs760364969	RCV005936774
FANCI-related disorder	Likely pathogenic; Pathogenic	rs771312042, rs1222323889, rs760364969	RCV003401850 RCV003403931 RCV003899683
Fanconi anemia	Likely pathogenic; Pathogenic	rs2053066295, rs745893292, rs2151924296, rs1567175626, rs759398314, rs544848412, rs773847168, rs776329920, rs768310043, rs771312042, rs2151724213, rs761982725, rs1400441798, rs748961800, rs2151549770 View all (130 more)	RCV001377100 RCV001385987 RCV001385762 RCV001383185 RCV001615388 RCV001615389 RCV003523109 RCV001885182 RCV001990629 RCV001912597 RCV001960585 RCV001979170 RCV001992032 RCV001901773 RCV001958852 RCV001891843 RCV001993199 RCV001877202 RCV001924375 RCV002035064 RCV002016812 RCV002029624 RCV001944243 RCV001914007 RCV001957738 RCV001916325 RCV002258577 RCV003523124 RCV003068254 RCV003082977 RCV003095721 RCV002606720 RCV002633065 RCV002666703 RCV002715758 RCV002790649 RCV000630839 RCV002846971 RCV002846205 RCV002889276 RCV002882066 RCV002927331 RCV002944151 RCV002942756 RCV002953467 RCV000203795 RCV000206316 RCV003522949 RCV003155617 RCV000230835 RCV003636030 RCV005100163 RCV003779030 RCV003636031 RCV003636032 RCV003636033 RCV003779031 RCV003779032 RCV005100164 RCV003636034 RCV005407161 RCV003523187 RCV003523188 RCV003523189 RCV005100165 RCV003523242 RCV003523353 RCV003524020 RCV003524085 RCV003524238 RCV003524351 RCV003522279 RCV003524162 RCV003524237 RCV003525079 RCV003522381 RCV003522504 RCV003522593 RCV003525027 RCV003525252 RCV003523729 RCV003523847 RCV003524638 RCV003524507 RCV003524512 RCV003524435 RCV003524444 RCV003524679 RCV003522708 RCV003522681 RCV003522813 RCV003524815 RCV003522667 RCV003522911 RCV003636345 RCV003636257 RCV003636358 RCV003636898 RCV003637056 RCV003637738 RCV003637634 RCV003637846 RCV003637877 RCV003637912 RCV003638071 RCV003635546 RCV003635583 RCV003635587 RCV003635644 RCV003635811 RCV003635858 RCV003635778 RCV003635819 RCV003636417 RCV003636518 RCV003636534 RCV003636767 RCV003636578 RCV003637427 RCV003637504 RCV003637615 RCV003828147 RCV003819002 RCV003818239 RCV003850830 RCV003842250 RCV003842974 RCV003847322 RCV003853996 RCV003851607 RCV003864651 RCV002509364 RCV000457201 RCV000460384 RCV000467025 RCV000705229 RCV003768170 RCV002536730 RCV001239482 RCV000807393 RCV000814808 RCV001035379 RCV001049832 RCV001053088 RCV003635946 RCV003523081 RCV002560182 RCV002560183 RCV002559234 RCV001382026 RCV003635947 RCV001205465
Fanconi anemia complementation group A	Likely pathogenic	rs1596324325	RCV000989376
Fanconi anemia complementation group I	Likely pathogenic; Pathogenic	rs1359408831, rs745893292, rs1567175626, rs759398314, rs544848412, rs773847168, rs776329920, rs771312042, rs761982725, rs1400441798, rs748961800, rs2054482551, rs756691827, rs758062617, rs754986558 View all (115 more)	RCV001332840 RCV003463009 RCV004570949 RCV005635189 RCV005005266 RCV001781089 RCV003464140 RCV005006185 RCV002484717 RCV003464371 RCV003464219 RCV002490097 RCV003471117 RCV002479454 RCV003471060 RCV002503674 RCV003464429 RCV003459747 RCV003465984 RCV000190643 RCV003465879 RCV003465873 RCV002478726 RCV000490489 RCV003461506 RCV003468163 RCV003461507 RCV003461508 RCV003468164 RCV003461509 RCV003461510 RCV003461511 RCV003468165 RCV003461512 RCV003468166 RCV003468167 RCV003468168 RCV003461514 RCV003468170 RCV003461516 RCV003468171 RCV003461517 RCV003461518 RCV003461519 RCV003461520 RCV003461521 RCV003468172 RCV003461522 RCV003461523 RCV003461524 RCV003468173 RCV003461525 RCV003468174 RCV003461526 RCV003461527 RCV003461528 RCV003461529 RCV003468175 RCV003461530 RCV003468176 RCV003468177 RCV003461531 RCV003461532 RCV003461533 RCV003461534 RCV003461535 RCV003468178 RCV003461537 RCV003461538 RCV003461539 RCV003461540 RCV003461541 RCV003461542 RCV003461543 RCV003461544 RCV003461545 RCV003461546 RCV003468179 RCV003461547 RCV003468180 RCV003461549 RCV003468181 RCV003468182 RCV003468183 RCV003461550 RCV003468184 RCV005003674 RCV004574134 RCV005013060 RCV005013133 RCV004573262 RCV004573342 RCV005013202 RCV004573366 RCV004573418 RCV004576580 RCV004576581 RCV004576582 RCV004576583 RCV004576584 RCV004576585 RCV004576586 RCV004576587 RCV004576589 RCV004576590 RCV004576591 RCV004576592 RCV004576593 RCV001194983 RCV000502163 RCV003460983 RCV003461000 RCV000778449 RCV000778450 RCV002505500 RCV004570090 RCV001194980 RCV001194981 RCV001194990 RCV001194993 RCV003462669 RCV002484061 RCV001194997 RCV001194998 RCV001194999 RCV001195000 RCV001195001 RCV001195003 RCV001194982 RCV001194984 RCV001194986 RCV001194987 RCV001194988 RCV001194989 RCV002497697
Gastric cancer	Likely pathogenic; Pathogenic	rs1432325198	RCV001194996
Neoplasm	Likely pathogenic	rs2507438903	RCV006274437
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1195350202	RCV005935084

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs199531931, rs28446881	RCV005929790 RCV005899543
Cervical cancer	Likely benign; Benign	rs28551554, rs140069732, rs73468711, rs28446881	RCV005918916 RCV005915346 RCV005920257 RCV005899544
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign; Likely benign	rs151169233, rs145349375, rs114549781	RCV005895238 RCV005893413 RCV005901237
Hereditary cancer-predisposing syndrome	Conflicting classifications of pathogenicity; Likely benign	rs145762491, rs2053625732	RCV005251089 RCV003988813
Immunodeficiency 62	Uncertain significance	rs369990131, rs377630829	RCV003447710 RCV003447523
Lung cancer	Likely benign; Benign	rs145405529, rs73468711	RCV005916451 RCV005920260
Malignant tumor of breast	Uncertain significance	rs202066338	RCV001004844
Malignant tumor of esophagus	Likely benign	rs145405529	RCV005916448
Malignant tumor of urinary bladder	Uncertain significance	rs776067081, rs925359228	RCV005911152 RCV005909095
Melanoma	Uncertain significance	rs766073258	RCV005899472
Microcephaly	Uncertain significance	rs772968604, rs768553208	RCV001252857 RCV001252858
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	rs151169233, rs760199293	RCV005895240 RCV005910935
Sarcoma	Benign; Likely benign	rs73468711, rs28446881	RCV005920258 RCV005899545
Thymoma	Likely benign	rs145405529	RCV005916450
Uterine carcinosarcoma	Benign	rs148365638	RCV005927873
Uterine corpus endometrial carcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	rs145405529, rs73468711, rs151169233	RCV005916452 RCV005920261 RCV005895242

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)