SPATA31F1 (SPATA31 subfamily F member 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 259308
Gene name SPATA31 subfamily F member 1
Gene symbol SPATA31F1
Synonyms (NCBI Gene)
C9orf144BFAM205A
Chromosome 9
Chromosome location 9p13.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
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GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus HDA 21630459
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZU69
Protein name Protein SPATA31F1 (Protein FAM205A)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14650 FAM75 448 → 644 FAM75 family Family
PF14650 FAM75 413 → 459 FAM75 family Family
PF15371 DUF4599 52 → 138 Domain of unknown function (DUF4599) Family
Sequence 
MLSPTFVLWEVGYPLYIYGSIFIVIVIIWQVKRSHHELSSEPKRSCCRCHQKVRQRARDA
ASTARRRSREEAEKPQKLLSIIKSQGWLPLERSVRRILCADPCCQICNSVALEIQQLLVG
ENNQISLTLSGPLQGSSCLEMLSTSSMSLDQSLEFHSWHTRELSLSSVTPTLSQLTDQKS
LTQSAAQSTYADGIQDYWADHLQLGQEFQVPDVLRGPNTIASSRIEKPRAPLNQEEMTQS
NPSLVQGNQGQHHLNSQVSLLSLNPETLNRMHPMALHMVLPAHLPFLSPEVLRLLEVHVK
KWMHFQRWGLPRRVEESLRQLMPNPPLYYQPGNDQPVSFNLKNTPQVSLHRFETISLQTW
CSCVAGQPIQTFWVSEWSTMNPEQRHHCQQTPNPMALALPSPALKALSGPHPQSGGQDND
SGSDLQQKYSQLFCGLPSLHSESLVATFMGSQGLPKIENVPKPPLKDPFLFNELSFPQLL
PKTSPQSAPPSSPLSPNWMSPSDHQRAQINVPFLTLAEYEALEWHLLQRQLQLQWGWPAA
LQRSQHTQCLMQHEPCGKAQSPETTTASQTGKSISVLTRELLFFPEHARKLLEFHIQKQL
IRHRWGLPQKIQQSIQLLLTSTDQQTVSSSSTALANVSIPQPVALEANGACDVLSPIAAP
VSIPRPHLLTQVKAILQSHIDSKCGQIHQGKIPACVHRSWDCRISGVLAVAPFPCIPESQ
FLELQTASDPDLHHKVMPWMPTALDQQQQALPGTVTEHPKLLRVLSVEAIEKLETTLRHK
HLAFLSGLPALYYVALPRALAPAVTSQSVITEMEPSPVEIPAEPLIQMVSFEEQCISLGP
CPQGNNESCTDVAKEFQPAVPVKGTMETLPLESQTHPTSPHSLQTHILTKLNFHLRKKVL
EIQWGIPIRARKSREQTVAAPENISTQKSLESLNHQGETLLQELPIPPDTLPAPNPEGVH
LKEQLANDLKAVQQNQKQSNSKAVPQGSAHSVSKISQPSGDMTEAHMPCVQVEANVNKPS
LEEPCGPEPQSPSKSKDPAHVPMLAGNREDPEETKAARDHREGDAGFGRSSTREERRPAE
DQRPAGMLPNKTPRGSWRWSRSFHLADPCQHSPQHHPQLKLPQLPPRVPGEKESEKDLQD
SQTKLTVILEPATIPENAQTVLPQASQGQPFLSQPTQAKPLQGQTLQGQVLHGLVMPVHA
QKKPSLTESSFRNKIKCFLQHINPKTKGKGHEDSMFSAAAKVAKTRKENVAKSLAPAKSP
VGRSKTEKPTGCSKAQSRPAQKLVGPAFLDGPQSLDDKLRLHSRQPGSASALGYPRHCPR
HCPREACANKPGHPT
Sequence length 1335
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (14)
Phenotype Name Clinical Significance Source Reference Evidence Score
Abnormality of neuronal migration Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS — GWAS catalog 26974007
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE — GWAS catalog 30572963
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog 34981446
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog 34981446
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 36456645 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
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CCL21 3 shared diseasesAutoimmune disease, Celiac disease, Sclerosing cholangitis 4 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Autoimmune disease), GWAS catalog (Celiac disease), GWAS catalog (Sclerosing cholangitis) Related via 3 shared diseases including Autoimmune disease, Celiac disease — evidence mostly GWAS catalog. PUS10 3 shared diseasesAutoimmune disease, Celiac disease, Sclerosing cholangitis 4 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Autoimmune disease), GWAS catalog (Celiac disease), GWAS catalog (Sclerosing cholangitis) Related via 3 shared diseases including Autoimmune disease, Celiac disease — evidence mostly GWAS catalog. RAVER1 2 shared diseasesAutoimmune disease, Sclerosing cholangitis 3 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Autoimmune disease), GWAS catalog (Sclerosing cholangitis) Related via 2 shared diseases including Autoimmune disease, Sclerosing cholangitis — evidence mostly GWAS catalog. GPR35 3 shared diseasesAutoimmune disease, Celiac disease, Sclerosing cholangitis 4 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Autoimmune disease), GWAS catalog (Celiac disease), GWAS catalog (Sclerosing cholangitis) Related via 3 shared diseases including Autoimmune disease, Celiac disease — evidence mostly GWAS catalog. INAVA 2 shared diseasesCeliac disease, Sclerosing cholangitis 3 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Celiac disease), GWAS catalog (Sclerosing cholangitis) Related via 2 shared diseases including Celiac disease, Sclerosing cholangitis — evidence mostly GWAS catalog.
Inflammatory bowel disease Linked via 3 of 5 related genesPUS10, GPR35, INAVA Multiple sclerosis Linked via 2 of 5 related genesPUS10, INAVA Systemic lupus erythematosus Linked via 2 of 5 related genesRAVER1, GPR35 Diabetes mellitus type 1 Linked via 2 of 5 related genesRAVER1, GPR35 Bipolar disorder Linked via 2 of 5 related genesGPR35, INAVA