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.	2176
Gene name Gene Name - the full gene name approved by the HGNC.	FA complementation group C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FANCC
Synonyms (NCBI Gene) Gene synonyms aliases	FA3, FAC, FACC
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q22.32
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(50)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800365	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign	Missense variant, intron variant, coding sequence variant, genic upstream transcript variant
rs104886456	T>A	Pathogenic	Genic upstream transcript variant, intron variant
rs104886459	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs121917783	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs121917784	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs138629441	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs145394391	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs374176091	C>A,G,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant, intron variant, genic upstream transcript variant
rs377294947	C>T	Pathogenic-likely-pathogenic	Stop gained, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs587779898	T>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs587779904	ATGAGA>T	Pathogenic-likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs730881708	CTCT>-,CT	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs730881731	G>A	Likely-pathogenic, pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs755657969	CT>-	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs769039987	G>A,T	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, stop gained, genic upstream transcript variant, synonymous variant
rs774170058	->T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, genic upstream transcript variant
rs777918411	A>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs781542763	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, stop gained
rs794726668	C>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs876661231	C>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs878853671	->C	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1014112491	C>G	Likely-pathogenic	Intron variant, genic upstream transcript variant, splice acceptor variant
rs1057516247	C>-	Likely-pathogenic	Coding sequence variant, splice donor variant, genic upstream transcript variant, 5 prime UTR variant
rs1057516291	C>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs1057516384	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs1057516917	C>A	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, splice acceptor variant
rs1057517125	C>A,G	Likely-pathogenic	Intron variant, splice donor variant, genic upstream transcript variant
rs1057517131	->GA	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs1057517147	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs1057517203	->T	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs1057517219	T>C,G	Likely-pathogenic, pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1057519366	G>-,GG	Likely-pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant
rs1060499606	GAGAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs1064793405	C>G,T	Pathogenic, uncertain-significance	5 prime UTR variant, genic upstream transcript variant, missense variant, coding sequence variant, stop gained
rs1228886763	C>T	Likely-pathogenic	Upstream transcript variant, genic upstream transcript variant, splice donor variant
rs1268491295	->G	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, genic upstream transcript variant
rs1368374192	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, 5 prime UTR variant, initiator codon variant, genic upstream transcript variant
rs1484503633	C>A,T	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1554842611	->C	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554842855	G>C	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1554857855	->T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554858249	C>-	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, splice donor variant
rs1564719070	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1564720605	TT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs1564720637	CT>-	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs1588218493	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1588220728	AT>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant
rs1588220764	GA>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant
rs1588350264	C>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant
rs1588353886	GAA>TTGATCTT	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, frameshift variant

Show/Hide all(197)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029075	hsa-miR-26b-5p	Microarray	19088304
MIRT046532	hsa-miR-15b-5p	CLASH	23622248
MIRT706970	hsa-miR-6733-3p	HITS-CLIP	21572407
MIRT706969	hsa-miR-6812-3p	HITS-CLIP	21572407
MIRT706968	hsa-miR-1267	HITS-CLIP	21572407
MIRT706967	hsa-miR-367-5p	HITS-CLIP	21572407
MIRT706966	hsa-miR-1273f	HITS-CLIP	21572407
MIRT706965	hsa-miR-6499-3p	HITS-CLIP	21572407
MIRT706964	hsa-miR-3135b	HITS-CLIP	21572407
MIRT706963	hsa-miR-504-3p	HITS-CLIP	21572407
MIRT706962	hsa-miR-122-5p	HITS-CLIP	21572407
MIRT706961	hsa-miR-3652	HITS-CLIP	21572407
MIRT706960	hsa-miR-4430	HITS-CLIP	21572407
MIRT706959	hsa-miR-143-5p	HITS-CLIP	21572407
MIRT706958	hsa-miR-6501-5p	HITS-CLIP	21572407
MIRT706957	hsa-miR-4423-5p	HITS-CLIP	21572407
MIRT706956	hsa-miR-6843-3p	HITS-CLIP	21572407
MIRT706955	hsa-miR-6848-3p	HITS-CLIP	21572407
MIRT706954	hsa-miR-744-3p	HITS-CLIP	21572407
MIRT706953	hsa-miR-5698	HITS-CLIP	21572407
MIRT648757	hsa-miR-873-5p	HITS-CLIP	23824327
MIRT648756	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT648755	hsa-miR-587	HITS-CLIP	23824327
MIRT531247	hsa-miR-548ae-3p	PAR-CLIP	22012620
MIRT531246	hsa-miR-548ah-3p	PAR-CLIP	22012620
MIRT531245	hsa-miR-548aj-3p	PAR-CLIP	22012620
MIRT531244	hsa-miR-548am-3p	PAR-CLIP	22012620
MIRT531243	hsa-miR-548aq-3p	PAR-CLIP	22012620
MIRT531242	hsa-miR-548j-3p	PAR-CLIP	22012620
MIRT531241	hsa-miR-548x-3p	PAR-CLIP	22012620
MIRT531239	hsa-miR-7844-5p	PAR-CLIP	22012620
MIRT531240	hsa-miR-5007-5p	PAR-CLIP	22012620
MIRT531238	hsa-miR-6760-5p	PAR-CLIP	22012620
MIRT531237	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT531236	hsa-miR-211-3p	PAR-CLIP	22012620
MIRT531235	hsa-miR-4270	PAR-CLIP	22012620
MIRT531234	hsa-miR-4441	PAR-CLIP	22012620
MIRT531233	hsa-miR-6754-5p	PAR-CLIP	22012620
MIRT531232	hsa-miR-5192	PAR-CLIP	22012620
MIRT531231	hsa-miR-6731-5p	PAR-CLIP	22012620
MIRT531230	hsa-miR-8085	PAR-CLIP	22012620
MIRT706970	hsa-miR-6733-3p	HITS-CLIP	21572407
MIRT706969	hsa-miR-6812-3p	HITS-CLIP	21572407
MIRT706968	hsa-miR-1267	HITS-CLIP	21572407
MIRT706967	hsa-miR-367-5p	HITS-CLIP	21572407
MIRT706966	hsa-miR-1273f	HITS-CLIP	21572407
MIRT706965	hsa-miR-6499-3p	HITS-CLIP	21572407
MIRT706964	hsa-miR-3135b	HITS-CLIP	21572407
MIRT706963	hsa-miR-504-3p	HITS-CLIP	21572407
MIRT706962	hsa-miR-122-5p	HITS-CLIP	21572407
MIRT706961	hsa-miR-3652	HITS-CLIP	21572407
MIRT706960	hsa-miR-4430	HITS-CLIP	21572407
MIRT706959	hsa-miR-143-5p	HITS-CLIP	21572407
MIRT706958	hsa-miR-6501-5p	HITS-CLIP	21572407
MIRT706957	hsa-miR-4423-5p	HITS-CLIP	21572407
MIRT706956	hsa-miR-6843-3p	HITS-CLIP	21572407
MIRT706955	hsa-miR-6848-3p	HITS-CLIP	21572407
MIRT706954	hsa-miR-744-3p	HITS-CLIP	21572407
MIRT706953	hsa-miR-5698	HITS-CLIP	21572407
MIRT648757	hsa-miR-873-5p	HITS-CLIP	23824327
MIRT648756	hsa-miR-302c-5p	HITS-CLIP	23824327
MIRT648755	hsa-miR-587	HITS-CLIP	23824327
MIRT531247	hsa-miR-548ae-3p	PAR-CLIP	22012620
MIRT531246	hsa-miR-548ah-3p	PAR-CLIP	22012620
MIRT531245	hsa-miR-548aj-3p	PAR-CLIP	22012620
MIRT531244	hsa-miR-548am-3p	PAR-CLIP	22012620
MIRT531243	hsa-miR-548aq-3p	PAR-CLIP	22012620
MIRT531242	hsa-miR-548j-3p	PAR-CLIP	22012620
MIRT531241	hsa-miR-548x-3p	PAR-CLIP	22012620
MIRT531239	hsa-miR-7844-5p	PAR-CLIP	22012620
MIRT531240	hsa-miR-5007-5p	PAR-CLIP	22012620
MIRT531238	hsa-miR-6760-5p	PAR-CLIP	22012620
MIRT531237	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT531236	hsa-miR-211-3p	PAR-CLIP	22012620
MIRT531235	hsa-miR-4270	PAR-CLIP	22012620
MIRT531234	hsa-miR-4441	PAR-CLIP	22012620
MIRT531233	hsa-miR-6754-5p	PAR-CLIP	22012620
MIRT531232	hsa-miR-5192	PAR-CLIP	22012620
MIRT531231	hsa-miR-6731-5p	PAR-CLIP	22012620
MIRT531230	hsa-miR-8085	PAR-CLIP	22012620
MIRT988966	hsa-miR-1178	CLIP-seq
MIRT988967	hsa-miR-122	CLIP-seq
MIRT988968	hsa-miR-1285	CLIP-seq
MIRT988969	hsa-miR-1323	CLIP-seq
MIRT988970	hsa-miR-149	CLIP-seq
MIRT988971	hsa-miR-1587	CLIP-seq
MIRT988972	hsa-miR-2964a-5p	CLIP-seq
MIRT988973	hsa-miR-3121-3p	CLIP-seq
MIRT988974	hsa-miR-3126-5p	CLIP-seq
MIRT988975	hsa-miR-3136-5p	CLIP-seq
MIRT988976	hsa-miR-3182	CLIP-seq
MIRT988977	hsa-miR-3187-5p	CLIP-seq
MIRT988978	hsa-miR-3194-3p	CLIP-seq
MIRT988979	hsa-miR-3614-5p	CLIP-seq
MIRT988980	hsa-miR-3649	CLIP-seq
MIRT988981	hsa-miR-3661	CLIP-seq
MIRT988982	hsa-miR-3686	CLIP-seq
MIRT988983	hsa-miR-371b-5p	CLIP-seq
MIRT988984	hsa-miR-378g	CLIP-seq
MIRT988985	hsa-miR-4274	CLIP-seq
MIRT988986	hsa-miR-433	CLIP-seq
MIRT988987	hsa-miR-4419a	CLIP-seq
MIRT988988	hsa-miR-4439	CLIP-seq
MIRT988989	hsa-miR-4446-5p	CLIP-seq
MIRT988990	hsa-miR-4486	CLIP-seq
MIRT988991	hsa-miR-4492	CLIP-seq
MIRT988992	hsa-miR-4498	CLIP-seq
MIRT988993	hsa-miR-4502	CLIP-seq
MIRT988994	hsa-miR-4510	CLIP-seq
MIRT988995	hsa-miR-4512	CLIP-seq
MIRT988996	hsa-miR-4513	CLIP-seq
MIRT988997	hsa-miR-4519	CLIP-seq
MIRT988998	hsa-miR-4635	CLIP-seq
MIRT988999	hsa-miR-4656	CLIP-seq
MIRT989000	hsa-miR-4675	CLIP-seq
MIRT989001	hsa-miR-4695-3p	CLIP-seq
MIRT989002	hsa-miR-4704-5p	CLIP-seq
MIRT989003	hsa-miR-4729	CLIP-seq
MIRT989004	hsa-miR-4741	CLIP-seq
MIRT989005	hsa-miR-4742-3p	CLIP-seq
MIRT989006	hsa-miR-4755-5p	CLIP-seq
MIRT989007	hsa-miR-4766-3p	CLIP-seq
MIRT989008	hsa-miR-4777-3p	CLIP-seq
MIRT989009	hsa-miR-4797-5p	CLIP-seq
MIRT989010	hsa-miR-492	CLIP-seq
MIRT989011	hsa-miR-548o	CLIP-seq
MIRT989012	hsa-miR-548p	CLIP-seq
MIRT989013	hsa-miR-612	CLIP-seq
MIRT989014	hsa-miR-627	CLIP-seq
MIRT989015	hsa-miR-631	CLIP-seq
MIRT989016	hsa-miR-759	CLIP-seq
MIRT989017	hsa-miR-760	CLIP-seq
MIRT989018	hsa-miR-762	CLIP-seq
MIRT989019	hsa-miR-875-5p	CLIP-seq
MIRT989020	hsa-miR-924	CLIP-seq
MIRT1993043	hsa-miR-1264	CLIP-seq
MIRT1993044	hsa-miR-1307	CLIP-seq
MIRT1993045	hsa-miR-3127-5p	CLIP-seq
MIRT1993046	hsa-miR-3180-5p	CLIP-seq
MIRT1993047	hsa-miR-3918	CLIP-seq
MIRT1993048	hsa-miR-409-3p	CLIP-seq
MIRT1993049	hsa-miR-4268	CLIP-seq
MIRT1993050	hsa-miR-4284	CLIP-seq
MIRT1993051	hsa-miR-4297	CLIP-seq
MIRT988986	hsa-miR-433	CLIP-seq
MIRT988993	hsa-miR-4502	CLIP-seq
MIRT1993052	hsa-miR-4638-5p	CLIP-seq
MIRT989001	hsa-miR-4695-3p	CLIP-seq
MIRT1993053	hsa-miR-4724-3p	CLIP-seq
MIRT1993054	hsa-miR-4733-3p	CLIP-seq
MIRT1993055	hsa-miR-4763-5p	CLIP-seq
MIRT1993056	hsa-miR-532-3p	CLIP-seq
MIRT1993057	hsa-miR-564	CLIP-seq
MIRT1993058	hsa-miR-576-5p	CLIP-seq
MIRT2226974	hsa-miR-103a	CLIP-seq
MIRT2226975	hsa-miR-107	CLIP-seq
MIRT988967	hsa-miR-122	CLIP-seq
MIRT2226976	hsa-miR-1224-3p	CLIP-seq
MIRT2226977	hsa-miR-1260	CLIP-seq
MIRT2226978	hsa-miR-1260b	CLIP-seq
MIRT2226979	hsa-miR-1280	CLIP-seq
MIRT1993044	hsa-miR-1307	CLIP-seq
MIRT2226980	hsa-miR-3065-5p	CLIP-seq
MIRT2226981	hsa-miR-335	CLIP-seq
MIRT2226982	hsa-miR-3934	CLIP-seq
MIRT2226983	hsa-miR-4252	CLIP-seq
MIRT2226984	hsa-miR-4310	CLIP-seq
MIRT988986	hsa-miR-433	CLIP-seq
MIRT2226985	hsa-miR-4330	CLIP-seq
MIRT2226986	hsa-miR-4432	CLIP-seq
MIRT2226987	hsa-miR-4494	CLIP-seq
MIRT2226988	hsa-miR-450b-3p	CLIP-seq
MIRT2226989	hsa-miR-4532	CLIP-seq
MIRT1993052	hsa-miR-4638-5p	CLIP-seq
MIRT989001	hsa-miR-4695-3p	CLIP-seq
MIRT2226990	hsa-miR-4713-3p	CLIP-seq
MIRT2226991	hsa-miR-499a-5p	CLIP-seq
MIRT2226992	hsa-miR-513a-5p	CLIP-seq
MIRT1993056	hsa-miR-532-3p	CLIP-seq
MIRT2226993	hsa-miR-552	CLIP-seq
MIRT2226994	hsa-miR-638	CLIP-seq
MIRT2226995	hsa-miR-769-3p	CLIP-seq
MIRT2226976	hsa-miR-1224-3p	CLIP-seq
MIRT2449462	hsa-miR-4267	CLIP-seq
MIRT2449463	hsa-miR-4286	CLIP-seq
MIRT2449464	hsa-miR-720	CLIP-seq
MIRT988967	hsa-miR-122	CLIP-seq
MIRT2530800	hsa-miR-186	CLIP-seq
MIRT2449464	hsa-miR-720	CLIP-seq
MIRT2226976	hsa-miR-1224-3p	CLIP-seq
MIRT2226977	hsa-miR-1260	CLIP-seq
MIRT2226978	hsa-miR-1260b	CLIP-seq
MIRT2226979	hsa-miR-1280	CLIP-seq
MIRT2530800	hsa-miR-186	CLIP-seq
MIRT2226981	hsa-miR-335	CLIP-seq
MIRT2226989	hsa-miR-4532	CLIP-seq
MIRT1993056	hsa-miR-532-3p	CLIP-seq

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	22343915
GO:0005515	Function	Protein binding	IPI	9596688, 12649160, 24412244, 26871637, 33961781, 35512704
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9398857
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9398857
GO:0005829	Component	Cytosol	IDA	9596688
GO:0005829	Component	Cytosol	TAS
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	1574115
GO:0006289	Process	Nucleotide-excision repair	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0034599	Process	Cellular response to oxidative stress	IBA
GO:0036297	Process	Interstrand cross-link repair	IEA
GO:0036297	Process	Interstrand cross-link repair	NAS	19965384
GO:0043240	Component	Fanconi anaemia nuclear complex	IBA
GO:0043240	Component	Fanconi anaemia nuclear complex	IDA	20347428, 22266823
GO:0043240	Component	Fanconi anaemia nuclear complex	IEA
GO:0043240	Component	Fanconi anaemia nuclear complex	NAS	22343915
GO:0065003	Process	Protein-containing complex assembly	TAS	9398857

MIM	HGNC	e!Ensembl
613899	3584	ENSG00000158169

Protein

UniProt ID

Q00597

Protein name

Fanconi anemia group C protein (Protein FACC)

Protein function

DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitat

PDB

7KZP , 7KZQ , 7KZR , 7KZS , 7KZT , 7KZV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02106	Fanconi_C	1 → 555	Fanconi anaemia group C protein	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTV
IERFPTIGQLLAKACWNPFILAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSH
ILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASELRENHLNGFNTQRRMAPERV
ASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVV
CLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRC
ALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIP
RGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPT
ALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLR
APAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIES
PRSEKLARELLKELRTQV

Sequence length

558

Interactions

View interactions

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

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Breast Cancer	Malignant tumor of breast	rs587779909, rs121917783, rs104886456	N/A
Fanconi Anemia	Fanconi anemia complementation group C, fanconi anemia, Fanconi anemia complementation group A	rs1588101086, rs794726668, rs587779909, rs1057517131, rs878853671, rs776529713, rs1057516298, rs1588353886, rs730881709, rs1554858249, rs776054094, rs121917784, rs1368374192, rs1057517203, rs863224441 View all (86 more)	N/A

Show/Hide Unknown Diseases (8)

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.
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Colorectal Cancer	colorectal cancer	N/A	N/A	GenCC
hereditary cancer	Hereditary cancer	N/A	N/A	ClinVar
Neuroticism	Neuroticism	N/A	N/A	GWAS
Ovarian cancer	Familial ovarian cancer, ovarian cancer	N/A	N/A	ClinVar, GenCC
ovarian cancer	Ovarian cancer	N/A	N/A	ClinVar
Pancreatic Neoplasm	malignant pancreatic neoplasm	N/A	N/A	GenCC
Prostate cancer	prostate cancer	N/A	N/A	GenCC

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abnormalities Drug Induced	Associate	9242535
Adenocarcinoma of Lung	Associate	26842001
Anemia Hemolytic	Associate	11167740, 7853372
Anorectal Malformations	Associate	36474027
Bloom Syndrome	Associate	18210922, 23028338
Bone Marrow Failure Disorders	Associate	11986317
Breast Neoplasms	Associate	17909071, 18990233, 23028338, 28891274, 31467304, 32427313
Carcinoma Hepatocellular	Associate	20509860, 37928536
Carcinoma Pancreatic Ductal	Associate	27616351, 32113160
Colorectal Neoplasms	Associate	18210922, 27165003
Diabetic Retinopathy	Associate	39924156
Drug Hypersensitivity	Associate	8822951
Drug Related Side Effects and Adverse Reactions	Associate	11500375, 9746759
Esophageal atresia with or without tracheoesophageal fistula	Associate	36135330
Fanconi Anemia	Associate	10572087, 10666230, 11001585, 11750104, 12239156, 15082718, 15256425, 15299030, 16127171, 19405097, 20509860, 23028338, 23613520, 25168418, 27165003 View all (20 more)
Friedreich Ataxia 1	Associate	20869034
Genetic Diseases Inborn	Associate	23028338
Hereditary Breast and Ovarian Cancer Syndrome	Associate	18210922, 27165003
Hypogonadism	Associate	33270637
Inflammation	Associate	20864535
Leukemia	Associate	20864535
Mesothelioma Malignant	Associate	28687356
Neoplasms	Associate	18210922, 28878254, 31937788, 32427313, 32778095, 37928536, 8621788
Neoplasms	Inhibit	26628061
Non Muscle Invasive Bladder Neoplasms	Associate	26238431, 32165095
Ovarian Neoplasms	Associate	34740923
Pancreatic Neoplasms	Associate	14726700, 15277238, 32113160
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	12670332, 18607065
Pseudohypoparathyroidism	Associate	26819647
Purpura Thrombocytopenic Idiopathic	Associate	26628061
Sarcoma	Associate	28878254
Sarcoma Ewing	Associate	35512711

FANCC (FA complementation group C)