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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Yonan, 2003 USA microsatellite-based genomic screenPDD 345 - 345 - - - -
Liu, 2001 USA microsatellite-based genomic screenautism, ASD 110 - 110 - - - -
Ylisaukko-oja, 2006 USA, Finland microsatellite-based genomic screenASD 314 - 314 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018