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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2195
Gene name Gene Name - the full gene name approved by the HGNC.	FAT atypical cadherin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FAT1
Synonyms (NCBI Gene) Gene synonyms aliases	CDHF7, CDHR8, FAT, ME5, hFat1
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q35.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is an ortholog of the Drosophila fat gene, which encodes a tumor suppressor essential for controlling cell proliferation during Drosophila development. The gene product is a member of the cadherin superfamily, a group of integral membrane protei

Show/Hide all(9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs180820128	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs185078412	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs201488687	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs369363545	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs375998390	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1579327590	->GC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1579484570	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1579484850	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1579491104	C>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(257)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047315	hsa-miR-181a-5p	CLASH	23622248
MIRT046601	hsa-miR-222-3p	CLASH	23622248
MIRT046026	hsa-miR-125b-5p	CLASH	23622248
MIRT440671	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440671	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT989787	hsa-miR-105	CLIP-seq
MIRT989788	hsa-miR-1244	CLIP-seq
MIRT989789	hsa-miR-1282	CLIP-seq
MIRT989790	hsa-miR-1302	CLIP-seq
MIRT989791	hsa-miR-1324	CLIP-seq
MIRT989792	hsa-miR-183	CLIP-seq
MIRT989793	hsa-miR-199a-3p	CLIP-seq
MIRT989794	hsa-miR-199b-3p	CLIP-seq
MIRT989795	hsa-miR-223	CLIP-seq
MIRT989796	hsa-miR-298	CLIP-seq
MIRT989797	hsa-miR-3117-5p	CLIP-seq
MIRT989798	hsa-miR-3122	CLIP-seq
MIRT989799	hsa-miR-3129-5p	CLIP-seq
MIRT989800	hsa-miR-3153	CLIP-seq
MIRT989801	hsa-miR-323-5p	CLIP-seq
MIRT989802	hsa-miR-3913-5p	CLIP-seq
MIRT989803	hsa-miR-4259	CLIP-seq
MIRT989804	hsa-miR-4298	CLIP-seq
MIRT989805	hsa-miR-4425	CLIP-seq
MIRT989806	hsa-miR-4463	CLIP-seq
MIRT989807	hsa-miR-4495	CLIP-seq
MIRT989808	hsa-miR-4645-3p	CLIP-seq
MIRT989809	hsa-miR-4668-5p	CLIP-seq
MIRT989810	hsa-miR-4697-3p	CLIP-seq
MIRT989811	hsa-miR-4703-3p	CLIP-seq
MIRT989812	hsa-miR-4711-5p	CLIP-seq
MIRT989813	hsa-miR-4715-5p	CLIP-seq
MIRT989814	hsa-miR-4719	CLIP-seq
MIRT989815	hsa-miR-4733-5p	CLIP-seq
MIRT989816	hsa-miR-4794	CLIP-seq
MIRT989817	hsa-miR-4799-5p	CLIP-seq
MIRT989818	hsa-miR-493	CLIP-seq
MIRT989819	hsa-miR-494	CLIP-seq
MIRT989820	hsa-miR-548u	CLIP-seq
MIRT989821	hsa-miR-570	CLIP-seq
MIRT989822	hsa-miR-605	CLIP-seq
MIRT989823	hsa-miR-659	CLIP-seq
MIRT989824	hsa-miR-875-3p	CLIP-seq
MIRT989825	hsa-miR-876-3p	CLIP-seq
MIRT989826	hsa-miR-892b	CLIP-seq
MIRT989788	hsa-miR-1244	CLIP-seq
MIRT989790	hsa-miR-1302	CLIP-seq
MIRT989793	hsa-miR-199a-3p	CLIP-seq
MIRT989794	hsa-miR-199b-3p	CLIP-seq
MIRT989798	hsa-miR-3122	CLIP-seq
MIRT989799	hsa-miR-3129-5p	CLIP-seq
MIRT989802	hsa-miR-3913-5p	CLIP-seq
MIRT989803	hsa-miR-4259	CLIP-seq
MIRT989804	hsa-miR-4298	CLIP-seq
MIRT989805	hsa-miR-4425	CLIP-seq
MIRT989808	hsa-miR-4645-3p	CLIP-seq
MIRT989811	hsa-miR-4703-3p	CLIP-seq
MIRT989813	hsa-miR-4715-5p	CLIP-seq
MIRT1548587	hsa-miR-548a-3p	CLIP-seq
MIRT1548588	hsa-miR-548ac	CLIP-seq
MIRT1548589	hsa-miR-548ae	CLIP-seq
MIRT1548590	hsa-miR-548aj	CLIP-seq
MIRT1548591	hsa-miR-548am	CLIP-seq
MIRT1548592	hsa-miR-548d-3p	CLIP-seq
MIRT1548593	hsa-miR-548e	CLIP-seq
MIRT1548594	hsa-miR-548f	CLIP-seq
MIRT1548595	hsa-miR-548x	CLIP-seq
MIRT1548596	hsa-miR-548z	CLIP-seq
MIRT1548597	hsa-miR-621	CLIP-seq
MIRT989824	hsa-miR-875-3p	CLIP-seq
MIRT989787	hsa-miR-105	CLIP-seq
MIRT1993337	hsa-miR-1273d	CLIP-seq
MIRT1993338	hsa-miR-203	CLIP-seq
MIRT989796	hsa-miR-298	CLIP-seq
MIRT1993339	hsa-miR-323b-3p	CLIP-seq
MIRT1993340	hsa-miR-3646	CLIP-seq
MIRT1993341	hsa-miR-374a	CLIP-seq
MIRT1993342	hsa-miR-374b	CLIP-seq
MIRT1993343	hsa-miR-3978	CLIP-seq
MIRT1993344	hsa-miR-432	CLIP-seq
MIRT1993345	hsa-miR-4661-3p	CLIP-seq
MIRT989817	hsa-miR-4799-5p	CLIP-seq
MIRT989818	hsa-miR-493	CLIP-seq
MIRT989819	hsa-miR-494	CLIP-seq
MIRT1548587	hsa-miR-548a-3p	CLIP-seq
MIRT1548593	hsa-miR-548e	CLIP-seq
MIRT1548594	hsa-miR-548f	CLIP-seq
MIRT2227175	hsa-miR-198	CLIP-seq
MIRT2227176	hsa-miR-3133	CLIP-seq
MIRT2227177	hsa-miR-3148	CLIP-seq
MIRT2227178	hsa-miR-3197	CLIP-seq
MIRT2227179	hsa-miR-3613-3p	CLIP-seq
MIRT2227180	hsa-miR-3680	CLIP-seq
MIRT2227181	hsa-miR-4276	CLIP-seq
MIRT2227182	hsa-miR-4453	CLIP-seq
MIRT2227183	hsa-miR-4538	CLIP-seq
MIRT2227184	hsa-miR-4641	CLIP-seq
MIRT1993345	hsa-miR-4661-3p	CLIP-seq
MIRT2227185	hsa-miR-4698	CLIP-seq
MIRT2227186	hsa-miR-4738-5p	CLIP-seq
MIRT2227187	hsa-miR-4773	CLIP-seq
MIRT2227188	hsa-miR-4798-3p	CLIP-seq
MIRT2227189	hsa-miR-499-3p	CLIP-seq
MIRT2227190	hsa-miR-499a-3p	CLIP-seq
MIRT2227191	hsa-miR-518a-5p	CLIP-seq
MIRT2227192	hsa-miR-520a-5p	CLIP-seq
MIRT2227193	hsa-miR-525-5p	CLIP-seq
MIRT2227194	hsa-miR-527	CLIP-seq
MIRT1548597	hsa-miR-621	CLIP-seq
MIRT2227195	hsa-miR-671-5p	CLIP-seq
MIRT989787	hsa-miR-105	CLIP-seq
MIRT1993343	hsa-miR-3978	CLIP-seq
MIRT1993344	hsa-miR-432	CLIP-seq
MIRT989819	hsa-miR-494	CLIP-seq
MIRT989787	hsa-miR-105	CLIP-seq
MIRT989789	hsa-miR-1282	CLIP-seq
MIRT989791	hsa-miR-1324	CLIP-seq
MIRT989792	hsa-miR-183	CLIP-seq
MIRT2227175	hsa-miR-198	CLIP-seq
MIRT989793	hsa-miR-199a-3p	CLIP-seq
MIRT989794	hsa-miR-199b-3p	CLIP-seq
MIRT989796	hsa-miR-298	CLIP-seq
MIRT989797	hsa-miR-3117-5p	CLIP-seq
MIRT989799	hsa-miR-3129-5p	CLIP-seq
MIRT2227176	hsa-miR-3133	CLIP-seq
MIRT989800	hsa-miR-3153	CLIP-seq
MIRT2531139	hsa-miR-3163	CLIP-seq
MIRT2531140	hsa-miR-3169	CLIP-seq
MIRT2227178	hsa-miR-3197	CLIP-seq
MIRT989801	hsa-miR-323-5p	CLIP-seq
MIRT1993339	hsa-miR-323b-3p	CLIP-seq
MIRT2227179	hsa-miR-3613-3p	CLIP-seq
MIRT2227180	hsa-miR-3680	CLIP-seq
MIRT1993341	hsa-miR-374a	CLIP-seq
MIRT1993342	hsa-miR-374b	CLIP-seq
MIRT1993343	hsa-miR-3978	CLIP-seq
MIRT2531141	hsa-miR-4284	CLIP-seq
MIRT1993344	hsa-miR-432	CLIP-seq
MIRT989805	hsa-miR-4425	CLIP-seq
MIRT2227182	hsa-miR-4453	CLIP-seq
MIRT989807	hsa-miR-4495	CLIP-seq
MIRT2227183	hsa-miR-4538	CLIP-seq
MIRT2227184	hsa-miR-4641	CLIP-seq
MIRT989808	hsa-miR-4645-3p	CLIP-seq
MIRT1993345	hsa-miR-4661-3p	CLIP-seq
MIRT989809	hsa-miR-4668-5p	CLIP-seq
MIRT2531142	hsa-miR-4700-3p	CLIP-seq
MIRT989815	hsa-miR-4733-5p	CLIP-seq
MIRT2227186	hsa-miR-4738-5p	CLIP-seq
MIRT2531143	hsa-miR-4740-5p	CLIP-seq
MIRT2531144	hsa-miR-4762-5p	CLIP-seq
MIRT2227187	hsa-miR-4773	CLIP-seq
MIRT2227188	hsa-miR-4798-3p	CLIP-seq
MIRT989817	hsa-miR-4799-5p	CLIP-seq
MIRT989818	hsa-miR-493	CLIP-seq
MIRT989819	hsa-miR-494	CLIP-seq
MIRT2227189	hsa-miR-499-3p	CLIP-seq
MIRT2227190	hsa-miR-499a-3p	CLIP-seq
MIRT2227191	hsa-miR-518a-5p	CLIP-seq
MIRT2227192	hsa-miR-520a-5p	CLIP-seq
MIRT2227193	hsa-miR-525-5p	CLIP-seq
MIRT2227194	hsa-miR-527	CLIP-seq
MIRT1548587	hsa-miR-548a-3p	CLIP-seq
MIRT1548588	hsa-miR-548ac	CLIP-seq
MIRT1548589	hsa-miR-548ae	CLIP-seq
MIRT1548590	hsa-miR-548aj	CLIP-seq
MIRT1548591	hsa-miR-548am	CLIP-seq
MIRT2531145	hsa-miR-548c-3p	CLIP-seq
MIRT1548592	hsa-miR-548d-3p	CLIP-seq
MIRT1548593	hsa-miR-548e	CLIP-seq
MIRT1548594	hsa-miR-548f	CLIP-seq
MIRT2531146	hsa-miR-548g	CLIP-seq
MIRT1548595	hsa-miR-548x	CLIP-seq
MIRT1548596	hsa-miR-548z	CLIP-seq
MIRT2531147	hsa-miR-549	CLIP-seq
MIRT989821	hsa-miR-570	CLIP-seq
MIRT2531148	hsa-miR-592	CLIP-seq
MIRT2531149	hsa-miR-597	CLIP-seq
MIRT989822	hsa-miR-605	CLIP-seq
MIRT989823	hsa-miR-659	CLIP-seq
MIRT2227195	hsa-miR-671-5p	CLIP-seq
MIRT989825	hsa-miR-876-3p	CLIP-seq
MIRT2531150	hsa-miR-892a	CLIP-seq
MIRT989787	hsa-miR-105	CLIP-seq
MIRT1993337	hsa-miR-1273d	CLIP-seq
MIRT989789	hsa-miR-1282	CLIP-seq
MIRT989791	hsa-miR-1324	CLIP-seq
MIRT989792	hsa-miR-183	CLIP-seq
MIRT2227175	hsa-miR-198	CLIP-seq
MIRT989796	hsa-miR-298	CLIP-seq
MIRT989797	hsa-miR-3117-5p	CLIP-seq
MIRT2680788	hsa-miR-3120-3p	CLIP-seq
MIRT2227176	hsa-miR-3133	CLIP-seq
MIRT989800	hsa-miR-3153	CLIP-seq
MIRT2531139	hsa-miR-3163	CLIP-seq
MIRT2531140	hsa-miR-3169	CLIP-seq
MIRT2227178	hsa-miR-3197	CLIP-seq
MIRT989801	hsa-miR-323-5p	CLIP-seq
MIRT1993339	hsa-miR-323b-3p	CLIP-seq
MIRT2227179	hsa-miR-3613-3p	CLIP-seq
MIRT2680789	hsa-miR-3617	CLIP-seq
MIRT2680790	hsa-miR-3647-3p	CLIP-seq
MIRT2227180	hsa-miR-3680	CLIP-seq
MIRT1993341	hsa-miR-374a	CLIP-seq
MIRT1993342	hsa-miR-374b	CLIP-seq
MIRT1993343	hsa-miR-3978	CLIP-seq
MIRT2680791	hsa-miR-4282	CLIP-seq
MIRT2531141	hsa-miR-4284	CLIP-seq
MIRT2680792	hsa-miR-4311	CLIP-seq
MIRT1993344	hsa-miR-432	CLIP-seq
MIRT989805	hsa-miR-4425	CLIP-seq
MIRT2227182	hsa-miR-4453	CLIP-seq
MIRT989807	hsa-miR-4495	CLIP-seq
MIRT2227183	hsa-miR-4538	CLIP-seq
MIRT2227184	hsa-miR-4641	CLIP-seq
MIRT1993345	hsa-miR-4661-3p	CLIP-seq
MIRT989809	hsa-miR-4668-5p	CLIP-seq
MIRT2531142	hsa-miR-4700-3p	CLIP-seq
MIRT989815	hsa-miR-4733-5p	CLIP-seq
MIRT2227186	hsa-miR-4738-5p	CLIP-seq
MIRT2531143	hsa-miR-4740-5p	CLIP-seq
MIRT2531144	hsa-miR-4762-5p	CLIP-seq
MIRT2227187	hsa-miR-4773	CLIP-seq
MIRT2227188	hsa-miR-4798-3p	CLIP-seq
MIRT989817	hsa-miR-4799-5p	CLIP-seq
MIRT989818	hsa-miR-493	CLIP-seq
MIRT989819	hsa-miR-494	CLIP-seq
MIRT2227189	hsa-miR-499-3p	CLIP-seq
MIRT2227190	hsa-miR-499a-3p	CLIP-seq
MIRT2227191	hsa-miR-518a-5p	CLIP-seq
MIRT2227192	hsa-miR-520a-5p	CLIP-seq
MIRT2680793	hsa-miR-520d-5p	CLIP-seq
MIRT2680794	hsa-miR-524-5p	CLIP-seq
MIRT2227193	hsa-miR-525-5p	CLIP-seq
MIRT2227194	hsa-miR-527	CLIP-seq
MIRT1548587	hsa-miR-548a-3p	CLIP-seq
MIRT1548588	hsa-miR-548ac	CLIP-seq
MIRT1548589	hsa-miR-548ae	CLIP-seq
MIRT1548590	hsa-miR-548aj	CLIP-seq
MIRT1548591	hsa-miR-548am	CLIP-seq
MIRT2531145	hsa-miR-548c-3p	CLIP-seq
MIRT1548592	hsa-miR-548d-3p	CLIP-seq
MIRT1548593	hsa-miR-548e	CLIP-seq
MIRT1548594	hsa-miR-548f	CLIP-seq
MIRT2531146	hsa-miR-548g	CLIP-seq
MIRT1548595	hsa-miR-548x	CLIP-seq
MIRT1548596	hsa-miR-548z	CLIP-seq
MIRT2531147	hsa-miR-549	CLIP-seq
MIRT989821	hsa-miR-570	CLIP-seq
MIRT2531148	hsa-miR-592	CLIP-seq
MIRT2531149	hsa-miR-597	CLIP-seq
MIRT989822	hsa-miR-605	CLIP-seq
MIRT2680795	hsa-miR-641	CLIP-seq
MIRT989823	hsa-miR-659	CLIP-seq
MIRT2227195	hsa-miR-671-5p	CLIP-seq
MIRT989825	hsa-miR-876-3p	CLIP-seq
MIRT2531150	hsa-miR-892a	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
ING1	Unknown	15743678

Show/Hide all(43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0003382	Process	Epithelial cell morphogenesis	IEA
GO:0003412	Process	Establishment of epithelial cell apical/basal polarity involved in camera-type eye morphogenesis	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	16979624, 19131340
GO:0005634	Component	Nucleus	IDA	15922730
GO:0005634	Component	Nucleus	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15922730
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8586420
GO:0005911	Component	Cell-cell junction	IDA	15148305
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007015	Process	Actin filament organization	IEA
GO:0007015	Process	Actin filament organization	ISS
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	8586420
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	ISS
GO:0007267	Process	Cell-cell signaling	TAS	8586420
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	8586420
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016477	Process	Cell migration	ISS
GO:0030027	Component	Lamellipodium	IEA
GO:0030054	Component	Cell junction	IEA
GO:0030175	Component	Filopodium	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IBA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15922730
GO:0048593	Process	Camera-type eye morphogenesis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	ISS
GO:1904385	Process	Cellular response to angiotensin	IEA
GO:1904754	Process	Positive regulation of vascular associated smooth muscle cell migration	IEA

MIM	HGNC	e!Ensembl
600976	3595	ENSG00000083857

Protein

UniProt ID

Q14517

Protein name

Protocadherin Fat 1 (Cadherin family member 7) (Cadherin-related tumor suppressor homolog) (Protein fat homolog) [Cleaved into: Protocadherin Fat 1, nuclear form]

Protein function

[Protocadherin Fat 1]: Plays an essential role for cellular polarization, directed cell migration and modulating cell-cell contact.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00028	Cadherin	154 → 248	Cadherin domain	Domain
PF00028	Cadherin	468 → 560	Cadherin domain	Domain
PF00028	Cadherin	722 → 813	Cadherin domain	Domain
PF00028	Cadherin	827 → 918	Cadherin domain	Domain
PF00028	Cadherin	932 → 1023	Cadherin domain	Domain
PF00028	Cadherin	1039 → 1130	Cadherin domain	Domain
PF00028	Cadherin	1144 → 1236	Cadherin domain	Domain
PF00028	Cadherin	1261 → 1344	Cadherin domain	Domain
PF00028	Cadherin	1363 → 1447	Cadherin domain	Domain
PF00028	Cadherin	1461 → 1553	Cadherin domain	Domain
PF00028	Cadherin	1567 → 1658	Cadherin domain	Domain
PF00028	Cadherin	1672 → 1756	Cadherin domain	Domain
PF00028	Cadherin	1774 → 1868	Cadherin domain	Domain
PF00028	Cadherin	1891 → 1970	Cadherin domain	Domain
PF00028	Cadherin	1984 → 2072	Cadherin domain	Domain
PF00028	Cadherin	2086 → 2175	Cadherin domain	Domain
PF00028	Cadherin	2187 → 2274	Cadherin domain	Domain
PF00028	Cadherin	2288 → 2381	Cadherin domain	Domain
PF00028	Cadherin	2395 → 2483	Cadherin domain	Domain
PF00028	Cadherin	2497 → 2587	Cadherin domain	Domain
PF00028	Cadherin	2601 → 2694	Cadherin domain	Domain
PF00028	Cadherin	2708 → 2800	Cadherin domain	Domain
PF00028	Cadherin	2814 → 2909	Cadherin domain	Domain
PF00028	Cadherin	2923 → 3014	Cadherin domain	Domain
PF00028	Cadherin	3028 → 3116	Cadherin domain	Domain
PF00028	Cadherin	3130 → 3221	Cadherin domain	Domain
PF00028	Cadherin	3235 → 3326	Cadherin domain	Domain
PF00028	Cadherin	3340 → 3431	Cadherin domain	Domain
PF00028	Cadherin	3445 → 3536	Cadherin domain	Domain
PF02210	Laminin_G_2	3859 → 3985	Laminin G domain	Domain
PF00008	EGF	4017 → 4048	EGF-like domain	Domain
PF00008	EGF	4093 → 4123	EGF-like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in many epithelial and some endothelial and smooth muscle cells.

Sequence

MGRHLALLLLLLLLFQHFGDSDGSQRLEQTPLQFTHLEYNVTVQENSAAKTYVGHPVKMG
VYITHPAWEVRYKIVSGDSENLFKAEEYILGDFCFLRIRTKGGNTAILNREVKDHYTLIV
KALEKNTNVEARTKVRVQVLDTNDLRPLFSPTSYSVSLPENTAIRTSIARVSATDADIGT
NGEFYYSFKDRTDMFAIHPTSGVIVLTGRLDYLETKLYEMEILAADRGMKLYGSSGISSM
AKLTVHIEQANECAPVITAVTLSPSELDRDPAYAIVTVDDCDQGANGDIASLSIVAGDLL
QQFRTVRSFPGSKEYKVKAIGGIDWDSHPFGYNLTLQAKDKGTPPQFSSVKVIHVTSPQF
KAGPVKFEKDVYRAEISEFAPPNTPVVMVKAIPAYSHLRYVFKSTPGKAKFSLNYNTGLI
SILEPVKRQQAAHFELEVTTSDRKASTKVLVKVLGANSNPPEFTQTAYKAAFDENVPIGT
TVMSLSAVDPDEGENGYVTYSIANLNHVPFAIDHFTGAVSTSENLDYELMPRVYTLRIRA
SDWGLPYRREVEVLATITLNNLNDNTPLFEKINCEGTIPRDLGVGEQITTVSAIDADELQ
LVQYQIEAGNELDFFSLNPNSGVLSLKRSLMDGLGAKVSFHSLRITATDGENFATPLYIN
ITVAASHKLVNLQCEETGVAKMLAEKLLQANKLHNQGEVEDIFFDSHSVNAHIPQFRSTL
PTGIQVKENQPVGSSVIFMNSTDLDTGFNGKLVYAVSGGNEDSCFMIDMETGMLKILSPL
DRETTDKYTLNITVYDLGIPQKAAWRLLHVVVVDANDNPPEFLQESYFVEVSEDKEVHSE
IIQVEATDKDLGPNGHVTYSIVTDTDTFSIDSVTGVVNIARPLDRELQHEHSLKIEARDQ
AREEPQLFSTVVVKVSLEDVNDNPPTFIPPNYRVKVREDLPEGTVIMWLEAHDPDLGQSG
QVRYSLLDHGEGNFDVDKLSGAVRIVQQLDFEKKQVYNLTVRAKDKGKPVSLSSTCYVEV
EVVDVNENLHPPVFSSFVEKGTVKEDAPVGSLVMTVSAHDEDARRDGEIRYSIRDGSGVG
VFKIGEETGVIETSDRLDRESTSHYWLTVFATDQGVVPLSSFIEIYIEVEDVNDNAPQTS
EPVYYPEIMENSPKDVSVVQIEAFDPDSSSNDKLMYKITSGNPQGFFSIHPKTGLITTTS
RKLDREQQDEHILEVTVTDNGSPPKSTIARVIVKILDENDNKPQFLQKFYKIRLPEREKP
DRERNARREPLYHVIATDKDEGPNAEISYSIEDGNEHGKFFIEPKTGVVSSKRFSAAGEY
DILSIKAVDNGRPQKSSTTRLHIEWISKPKPSLEPISFEESFFTFTVMESDPVAHMIGVI
SVEPPGIPLWFDITGGNYDSHFDVDKGTGTIIVAKPLDAEQKSNYNLTVEATDGTTTILT
QVFIKVIDTNDHRPQFSTSKYEVVIPEDTAPETEILQISAVDQDEKNKLIYTLQSSRDPL
SLKKFRLDPATGSLYTSEKLDHEAVHQHTLTVMVRDQDVPVKRNFARIVVNVSDTNDHAP
WFTASSYKGRVYESAAVGSVVLQVTALDKDKGKNAEVLYSIESGNIGNSFMIDPVLGSIK
TAKELDRSNQAEYDLMVKATDKGSPPMSEITSVRIFVTIADNASPKFTSKEYSVELSETV
SIGSFVGMVTAHSQSSVVYEIKDGNTGDAFDINPHSGTIITQKALDFETLPIYTLIIQGT
NMAGLSTNTTVLVHLQDENDNAPVFMQAEYTGLISESASINSVVLTDRNVPLVIRAADAD
KDSNALLVYHIVEPSVHTYFAIDSSTGAIHTVLSLDYEETSIFHFTVQVHDMGTPRLFAE
YAANVTVHVIDINDCPPVFAKPLYEASLLLPTYKGVKVITVNATDADSSAFSQLIYSITE
GNIGEKFSMDYKTGALTVQNTTQLRSRYELTVRASDGRFAGLTSVKINVKESKESHLKFT
QDVYSAVVKENSTEAETLAVITAIGNPINEPLFYHILNPDRRFKISRTSGVLSTTGTPFD
REQQEAFDVVVEVTEEHKPSAVAHVVVKVIVEDQNDNAPVFVNLPYYAVVKVDTEVGHVI
RYVTAVDRDSGRNGEVHYYLKEHHEHFQIGPLGEISLKKQFELDTLNKEYLVTVVAKDGG
NPAFSAEVIVPITVMNKAMPVFEKPFYSAEIAESIQVHSPVVHVQANSPEGLKVFYSITD
GDPFSQFTINFNTGVINVIAPLDFEAHPAYKLSIRATDSLTGAHAEVFVDIIVDDINDNP
PVFAQQSYAVTLSEASVIGTSVVQVRATDSDSEPNRGISYQMFGNHSKSHDHFHVDSSTG
LISLLRTLDYEQSRQHTIFVRAVDGGMPTLSSDVIVTVDVTDLNDNPPLFEQQIYEARIS
EHAPHGHFVTCVKAYDADSSDIDKLQYSILSGNDHKHFVIDSATGIITLSNLHRHALKPF
YSLNLSVSDGVFRSSTQVHVTVIGGNLHSPAFLQNEYEVELAENAPLHTLVMEVKTTDGD
SGIYGHVTYHIVNDFAKDRFYINERGQIFTLEKLDRETPAEKVISVRLMAKDAGGKVAFC
TVNVILTDDNDNAPQFRATKYEVNIGSSAAKGTSVVKVLASDADEGSNADITYAIEADSE
SVKENLEINKLSGVITTKESLIGLENEFFTFFVRAVDNGSPSKESVVLVYVKILPPEMQL
PKFSEPFYTFTVSEDVPIGTEIDLIRAEHSGTVLYSLVKGNTPESNRDESFVIDRQSGRL
KLEKSLDHETTKWYQFSILARCTQDDHEMVASVDVSIQVKDANDNSPVFESSPYEAFIVE
NLPGGSRVIQIRASDADSGTNGQVMYSLDQSQSVEVIESFAINMETGWITTLKELDHEKR
DNYQIKVVASDHGEKIQLSSTAIVDVTVTDVNDSPPRFTAEIYKGTVSEDDPQGGVIAIL
STTDADSEEINRQVTYFITGGDPLGQFAVETIQNEWKVYVKKPLDREKRDNYLLTITATD
GTFSSKAIVEVKVLDANDNSPVCEKTLYSDTIPEDVLPGKLIMQISATDADIRSNAEITY
TLLGSGAEKFKLNPDTGELKTSTPLDREEQAVYHLLVRATDGGGRFCQASIVLTLEDVND
NAPEFSADPYAITVFENTEPGTLLTRVQATDADAGLNRKILYSLIDSADGQFSINELSGI
IQLEKPLDRELQAVYTLSLKAVDQGLPRRLTATGTVIVSVLDINDNPPVFEYREYGATVS
EDILVGTEVLQVYAASRDIEANAEITYSIISGNEHGKFSIDSKTGAVFIIENLDYESSHE
YYLTVEATDGGTPSLSDVATVNVNVTDINDNTPVFSQDTYTTVISEDAVLEQSVITVMAD
DADGPSNSHIHYSIIDGNQGSSFTIDPVRGEVKVTKLLDRETISGYTLTVQASDNGSPPR
VNTTTVNIDVSDVNDNAPVFSRGNYSVIIQENKPVGFSVLQLVVTDEDSSHNGPPFFFTI
VTGNDEKAFEVNPQGVLLTSSAIKRKEKDHYLLQVKVADNGKPQLSSLTYIDIRVIEESI
YPPAILPLEIFITSSGEEYSGGVIGKIHATDQDVYDTLTYSLDPQMDNLFSVSSTGGKLI
AHKKLDIGQYLLNVSVTDGKFTTVADITVHIRQVTQEMLNHTIAIRFANLTPEEFVGDYW
RNFQRALRNILGVRRNDIQIVSLQSSEPHPHLDVLLFVEKPGSAQISTKQLLHKINSSVT
DIEEIIGVRILNVFQKLCAGLDCPWKFCDEKVSVDESVMSTHSTARLSFVTPRHHRAAVC
LCKEGRCPPVHHGCEDDPCPEGSECVSDPWEEKHTCVCPSGRFGQCPGSSSMTLTGNSYV
KYRLTENENKLEMKLTMRLRTYSTHAVVMYARGTDYSILEIHHGRLQYKFDCGSGPGIVS
VQSIQVNDGQWHAVALEVNGNYARLVLDQVHTASGTAPGTLKTLNLDNYVFFGGHIRQQG
TRHGRSPQVGNGFRGCMDSIYLNGQELPLNSKPRSYAHIEESVDVSPGCFLTATEDCASN
PCQNGGVCNPSPAGGYYCKCSALYIGTHCEISVNPCSSKPCLYGGTCVVDNGGFVCQCRG
LYTGQRCQLSPYCKDEPCKNGGTCFDSLDGAVCQCDSGFRGERCQSDIDECSGNPCLHGA
LCENTHGSYHCNCSHEYRGRHCEDAAPNQYVSTPWNIGLAEGIGIVVFVAGIFLLVVVFV
LCRKMISRKKKHQAEPKDKHLGPATAFLQRPYFDSKLNKNIYSDIPPQVPVRPISYTPSI
PSDSRNNLDRNSFEGSAIPEHPEFSTFNPESVHGHRKAVAVCSVAPNLPPPPPSNSPSDS
DSIQKPSWDFDYDTKVVDLDPCLSKKPLEEKPSQPYSARESLSEVQSLSSFQSESCDDNG
YHWDTSDWMPSVPLPDIQEFPNYEVIDEQTPLYSADPNAIDTDYYPGGYDIESDFPPPPE
DFPAADELPPLPPEFSNQFESIHPPRDMPAAGSLGSSSRNRQRFNLNQYLPNFYPLDMSE
PQTKGTGENSTCREPHAPYPPGYQRHFEAPAVESMPMSVYASTASCSDVSACCEVESEVM
MSDYESGDDGHFEEVTIPPLDSQQHTEV

Sequence length

4588

Interactions

View interactions

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Nephrotic Syndrome	nephrotic syndrome	rs375998390, rs570583897, rs369363545, rs201488687	N/A
Finnish Congenital Nephrotic Syndrome	finnish congenital nephrotic syndrome	rs1579327590	N/A
Multiple myeloma	multiple myeloma	rs1579484570, rs1579491104	N/A
Myasthenic Syndrome	Congenital myasthenic syndrome 12	rs1579484850	N/A

Show/Hide Unknown Diseases (4)

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.
Congenital finger flexion contractures	Flexion contracture	N/A	N/A	ClinVar
Gout	Gout	N/A	N/A	GWAS
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Obesity	Obesity	N/A	N/A	GWAS

Show/Hide Text Mining Associations (105)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35212236
Adenocarcinoma of Lung	Stimulate	35844799
Alzheimer Disease	Associate	23251365
Anophthalmos	Associate	34202629
Arthritis Juvenile	Associate	38001449
Astrocytoma	Associate	19126244
Ataxia Telangiectasia	Associate	26439923
Brain Neoplasms	Associate	34167951
Breast Neoplasms	Associate	29807833, 34288822, 34544752, 37804426
Breast Neoplasms Male	Associate	38369186
Carcinogenesis	Associate	19126244, 32705150, 35844799
Carcinoma Acinar Cell	Associate	25743105
Carcinoma Basal Cell	Associate	33928395
Carcinoma Hepatocellular	Associate	24590895, 27014972, 32233593, 33420124
Carcinoma Non Small Cell Lung	Associate	35212236, 36282125
Carcinoma Squamous Cell	Associate	25303977, 30657779, 32500594, 35212236, 38086165, 39694330
Chemical and Drug Induced Liver Injury	Associate	24388885
Cholangiocarcinoma	Associate	16311342
Chronic Kidney Disease Mineral and Bone Disorder	Associate	36720675
Coloboma	Associate	35179696, 36951427
Colorectal Neoplasms	Associate	27328312, 28551381, 36520636, 38364976
Dendritic Cell Sarcoma Follicular	Associate	30508944
Depressive Disorder Major	Associate	37511534
Developmental Defects of Enamel	Associate	36951427
Diabetic Nephropathies	Associate	22629296
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	37341234
Dyskinesias	Associate	34167951
Epilepsies Partial	Associate	36941137
Epilepsy	Associate	36941137
Esophageal Neoplasms	Associate	34712552
Esophageal Squamous Cell Carcinoma	Associate	27734031, 29565465, 31851786, 34263978, 35993362
Esophageal Squamous Cell Carcinoma	Inhibit	34185205
Facial Dysmorphism with Multiple Malformations	Associate	36951427
Facial Neoplasms	Associate	35179696
Facioscapulohumeral muscular dystrophy 1a	Associate	29436205
Glioblastoma	Associate	27536856, 31992226, 35720420
Glioma	Associate	27536856, 31992226
Glomerulonephritis	Associate	32902815
Head and Neck Neoplasms	Associate	26925973, 34167951, 38147801
Heart Defects Congenital	Associate	34202629
Hemangioma	Associate	40416971
Holoprosencephaly	Associate	30508070
Hyperaldosteronism	Associate	26063364
Hypertension	Associate	26063364
Hypoxia	Stimulate	24590895, 27536856
Hypoxia	Associate	33420124
Hypoxia Brain	Associate	27536856
Inflammation	Associate	27536856
Inflammation	Stimulate	35720420
Kidney Diseases	Associate	35179696
Leukemia	Associate	23433465
Leukemia Large Granular Lymphocytic	Associate	40594571
Leukemia Lymphocytic Chronic B Cell	Associate	24550227, 36567979, 37523714
Lymphoma T Cell	Associate	36567979
Lymphoma T Cell Peripheral	Associate	31028364
Medulloblastoma	Associate	33181666
Mental Disorders	Associate	37511534
Metabolic Syndrome	Associate	22457394
Microphthalmia Isolated with Coloboma 2	Associate	33418956
Microphthalmos	Associate	33418956
Mood Disorders	Associate	37511534
Mouth Neoplasms	Associate	29037125, 34167951
Multiple Myeloma	Associate	25743686
Muscular Diseases	Associate	29436205
Muscular Dystrophy Facioscapulohumeral	Associate	19888305
Neoplasm Metastasis	Associate	30429477, 37232011
Neoplasm Recurrence Local	Associate	33527763
Neoplasms	Inhibit	19126244, 24550227, 24590895, 25555879, 26438511, 29099504, 34185205, 34939311
Neoplasms	Associate	24493827, 25303977, 26873401, 27328312, 27693639, 29141020, 29565465, 29985391, 30239619, 30508944, 30657779, 31028364, 31199602, 31992226, 32139107 View all (16 more)
Neoplasms Squamous Cell	Associate	34167951
Nephrotic Syndrome	Associate	16050398, 32902815
Neuralgia	Associate	29099504, 29141020
Neuroendocrine Tumors	Associate	36645718
Neurologic Manifestations	Associate	26104008
Non alcoholic Fatty Liver Disease	Associate	24388885
Obesity	Associate	22457394
Osteosarcoma	Associate	35279875
Pancreatic Neoplasms	Associate	24625754
Parathyroid Neoplasms	Associate	34054720, 36611251
Penile Neoplasms	Inhibit	27325650
Polydactyly preaxial type 1	Associate	34202629
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	23433465, 28245838
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	23603912, 33436855, 36653435
Prehypertension	Associate	23433465
Proteinuria	Associate	32902815
Pulmonary Disease Chronic Obstructive	Associate	35860812
Reinjuries	Associate	34202629
Renal Insufficiency	Associate	36951427
Renal Insufficiency Chronic	Associate	36720675
Retinoblastoma	Associate	32139107
Sarcoma	Associate	29099504
Sarcoma Endometrial Stromal	Associate	38167455
Seizures	Associate	36941137
Seizures Febrile	Associate	36941137
Small Cell Lung Carcinoma	Associate	31199602
Squamous Cell Carcinoma of Head and Neck	Associate	23619168, 24292195, 25275298, 26876381, 27693639, 28435450, 29053175, 29985391, 30046007, 30249886, 30431092, 30657779, 31090975, 31093971, 32738272 View all (12 more)
Stomach Neoplasms	Associate	32461621
Syndactyly	Associate	36951427
Thymus Neoplasms	Associate	28506304
Triple Negative Breast Neoplasms	Associate	37147285
Urethritis	Associate	26663319
Urinary Bladder Neoplasms	Associate	24777035, 32705150
Uterine Cervical Dysplasia	Associate	30567904
Uterine Cervical Neoplasms	Associate	30567904, 35205332
Vulvar Diseases	Associate	29422544

FAT1 (FAT atypical cadherin 1)