AutismKB 2.0

Evidence Details for RNF38


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Basic Information Top
Gene Symbol:RNF38 ( FLJ21343 )
Gene Full Name: ring finger protein 38
Band: 9p13.2
Quick LinksEntrez ID:152006; OMIM: 612488; Uniprot ID:RNF38_HUMAN; ENSEMBL ID: ENSG00000137075; HGNC ID: 18052
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RNF38|152006|nucleotide
ATGGCTTGTAAGATATCTCCCGGGGCCAATTCAGCATCTCTACCTGGCCATCCTAACAAGGTGATTTGTGAAAGGGTGAGACTTCAGAGCCTGTTCCCTCTCCTC
CCAAGTGATCAGAACACTACCGTTCAAGAGGATGCTCACTTCAAAGCTTTCTTCCAGAGTGAAGATAGTCCAAGTCCTAAGAGACAGCGCCTCTCTCATTCAGTC
TTTGATTATACATCAGCATCACCAGCTCCCTCACCACCAATGCGACCATGGGAGATGACATCAAATAGGCAGCCCCCTTCAGTTCGACCAAGCCAACATCACTTC
TCAGGGGAACGATGCAACACACCTGCACGCAACAGAAGAAGTCCTCCTGTCAGGCGCCAGAGAGGAAGAAGGGATCGTCTGTCTCGACATAATTCCATTAGTCAA
GATGAAAACTATCACCATCTCCCTTACGCACAGCAGCAAGCAATAGAGGAGCCTCGAGCCTTCCACCCTCCGAATGTATCTCCCCGTCTGCTACATCCTGCTGCT
CATCCACCCCAGCAGAATGCAGTCATGGTTGACATACATGATCAGCTCCATCAAGGAACAGTCCCTGTTTCTTACACAGTAACAACAGTGGCACCACATGGGATT
CCACTCTGCACAGGCCAGCACATCCCTGCTTGTAGTACACAGCAGGTCCCAGGATGCTCTGTGGTTTTCAGTGGACAGCACCTCCCTGTCTGTAGTGTGCCTCCT
CCAATGCTTCAGGCATGTTCAGTTCAGCACTTACCAGTACCATATGCTGCATTCCCACCCCTTATTTCTAGTGATCCATTTCTTATACATCCTCCTCACCTTTCT
CCCCATCATCCTCCTCATTTGCCACCACCAGGCCAGTTTGTCCCTTTCCAAACACAGCAATCACGATCGCCTCTGCAAAGGATAGAAAATGAAGTGGAACTCTTA
GGAGAACATCTTCCAGTAGGAGGTTTTACTTACCCTCCATCAGCCCACCCCCCAACATTACCTCCATCAGCTCCCTTGCAGTTCTTAACACATGATCCTTTGCAT
CAGGAGGTGTCCTTTGGAGTACCTTATCCTCCATTTATGCCTCGGAGGCTTACAGGACGTAGTAGATACCGATCCCAGCAGCCAATACCACCTCCCCCTTATCAT
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>RNF38|152006|protein
MACKISPGANSASLPGHPNKVICERVRLQSLFPLLPSDQNTTVQEDAHFKAFFQSEDSPSPKRQRLSHSVFDYTSASPAPSPPMRPWEMTSNRQPPSVRPSQHHF
SGERCNTPARNRRSPPVRRQRGRRDRLSRHNSISQDENYHHLPYAQQQAIEEPRAFHPPNVSPRLLHPAAHPPQQNAVMVDIHDQLHQGTVPVSYTVTTVAPHGI
PLCTGQHIPACSTQQVPGCSVVFSGQHLPVCSVPPPMLQACSVQHLPVPYAAFPPLISSDPFLIHPPHLSPHHPPHLPPPGQFVPFQTQQSRSPLQRIENEVELL
GEHLPVGGFTYPPSAHPPTLPPSAPLQFLTHDPLHQEVSFGVPYPPFMPRRLTGRSRYRSQQPIPPPPYHPSLLPYVLSMLPVPPAVGPTFSFELDVEDGEVENY
EALLNLAERLGEAKPRGLTKADIEQLPSYRFNPNNHQSEQTLCVVCMCDFESRQLLRVLPCNHEFHAKCVDKWLKANRTCPICRADASEVHRDSE
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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
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
Sanders SJ, 2012 - 238 172 De novo mutations revealed by whole-exome sequencing are strongly associated with 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