AutismKB 2.0

Evidence Details for RNF139


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Basic Information Top
Gene Symbol:RNF139 ( HRCA1,MGC31961,RCA1,TRC8 )
Gene Full Name: ring finger protein 139
Band: 8q24.13
Quick LinksEntrez ID:11236; OMIM: 603046; Uniprot ID:RN139_HUMAN; ENSEMBL ID: ENSG00000170881; HGNC ID: 17023
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RNF139|11236|nucleotide
ATGGCGGCCGTGGGGCCCCCGCAGCAGCAGGTGCGGATGGCCCATCAGCAGGTCTGGGCGGCGCTCGAAGTGGCGCTCCGGGTGCCCTGCCTTTACATCATCGAC
GCCATCTTCAACTCCTACCCGGATTCCAGCCAAAGCCGGTTCTGCATCGTGCTCCAGATCTTCCTCCGGCTCTTTGGTGTATTTGCATCCAGTATTGTTCTGATC
TTGTCACAACGATCACTTTTCAAGTTTTACACGTACAGCTCAGCCTTTCTGTTAGCTGCAACTTCAGTGTTGGTGAATTATTATGCTTCTTTGCACATTGACTTC
TATGGTGCCTACAACACGTCAGCTTTTGGAATTGAGCTGCTTCCTCGAAAAGGTCCCTCGCTGTGGATGGCACTTATCGTTCTACAGCTAACATTTGGAATTGGA
TACGTTACACTACTCCAGATTCATTCCATCTATTCACAATTAATTATTTTGGATCTCTTGGTTCCTGTAATAGGCTTAATCACAGAGCTACCATTACACATCAGA
GAGACTTTACTGTTTACTTCTTCCTTGATTCTCACATTAAATACAGTGTTTGTCCTGGCAGTGAAACTGAAGTGGTTTTATTATTCCACACGATATGTTTATCTT
TTGGTGAGGCACATGTATCGAATTTACGGATTACAGTTATTGATGGAGGACACATGGAAGAGGATTCGTTTCCCAGACATACTACGAGTCTTTTGGCTAACAAGA
GTTACAGCTCAGGCTACAGTGTTAATGTACATCTTAAGGATGGCAAATGAAACTGATTCCTTCTTTATTTCTTGGGATGATTTTTGGGACCTCATTTGCAATCTT
ATAATTAGTGGGTGCGATTCTACACTAACTGTACTGGGCATGAGTGCTGTAATTTCCTCAGTAGCCCATTATTTGGGGCTTGGAATATTGGCCTTTATTGGATCA
ACTGAGGAAGATGACAGGCGTCTTGGCTTTGTTGCACCTGTTTTATTTTTTATTTTGGCTCTTCAGACTGGGTTAAGTGGGCTAAGACCAGAAGAGAGACTTATT
CGCTTAAGTAGAAACATGTGCCTTTTATTAACTGCAGTCCTGCATTTTATCCATGGAATGACAGACCCTGTATTAATGTCTCTCAGTGCCTCTCATGTGTCATCT
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>RNF139|11236|protein
MAAVGPPQQQVRMAHQQVWAALEVALRVPCLYIIDAIFNSYPDSSQSRFCIVLQIFLRLFGVFASSIVLILSQRSLFKFYTYSSAFLLAATSVLVNYYASLHIDF
YGAYNTSAFGIELLPRKGPSLWMALIVLQLTFGIGYVTLLQIHSIYSQLIILDLLVPVIGLITELPLHIRETLLFTSSLILTLNTVFVLAVKLKWFYYSTRYVYL
LVRHMYRIYGLQLLMEDTWKRIRFPDILRVFWLTRVTAQATVLMYILRMANETDSFFISWDDFWDLICNLIISGCDSTLTVLGMSAVISSVAHYLGLGILAFIGS
TEEDDRRLGFVAPVLFFILALQTGLSGLRPEERLIRLSRNMCLLLTAVLHFIHGMTDPVLMSLSASHVSSFRRHFPVLFVSACLFILPVLLSYVLWHHYALNTWL
FAVTAFCVELCLKVIVSLTVYTLFMIDGYYNVLWEKLDDYVYYVRSTGSIIEFIFGVVMFGNGAYTMMFESGSKIRAFMMCLHAYFNIYLQAKNGWKTFMNRRTA
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (2) 1 (3) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (6)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top