AutismKB 2.0

Evidence Details for ASB14


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Basic Information Top
Gene Symbol:ASB14 ( DKFZp313L0121 )
Gene Full Name: ankyrin repeat and SOCS box-containing 14
Band: 3p14.3
Quick LinksEntrez ID:142686; OMIM: NA; Uniprot ID:ASB14_HUMAN; ENSEMBL ID: ENSG00000174844,ENSG00000239388; HGNC ID: 19766
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ASB14|142686|nucleotide
ATGGATAATTACACCAGCGATGAAGACATAGATGAAGACTTTGACACCCAGCTCATCATTCAACAGAGTTTGCAGGATATTTATAAGCCAGGAACAGCACAACAT
GCACCTAAGGATGAGAGTTTGCATTCCTTTTTGAGCGCTGACTATAAGAAGATAGTTGAAACAATAGAGAAAGGTAAGGAAGATGCATTGTCACACTTAACCAAG
TACCATTCCGCATTTGGTGAAGCAGATGAGATAGGCTGGATTCCTCTGCATAAGGCTGCAGTGCAATTAAATAGGAAAATTTTGGAAATAACCCTAAGCGCTTCA
GACCCCAGTCTGTGGGAGCAAACCACTCACAATGGTGAAACGCCACTTTTTTTGGCTGTCAGCAGTTGCCTCTTAGAAAATGCCACTTTTCTTCTTCTCAATGGC
TGCAATCCAAATGCTAAGAATTTCGAAGGCAATTCTCCTCTTCTTGCAGCTGTGCTGCGTGACTGCTATGACATGGCTGCCTTGCTGATCAACTATGGAGCAGAT
GTCAATCTGCGTTGTGCCAACGAGAGGACAGCTCTCCACGAAGCAGCCAAACTGGGCAGAGAGGACATGGTGAAGCTTATGCTGGTTTCTGGGGCACACCCTGAC
CCACAGAGCACGTATGGATTCACTCCTCTTGCTCTTGCTGCCCAAAGTGGACACACTGAAATCATGGAAATGTTACTGCGGAAAGGAGCTAATGCTCATGGTCAG
GCCTCTGATTCTTCTTCCATCTTACTTGAAGCCGCAAGTGGAGGAAATCCAGATGCTGTGGCTCTCTTGCTGGAGTATGGAGCTGATGCCAACATCCCTAAGAAT
TCAGGCCACCTGCCCATCCATGTGGCAGCTGACAGGGGCCACTTACTAGCTCTAAAGATACTGATTCCAGTTACGGATCTTGCTGCCATTAAGCAGAGTGGGATC
AGTCCAGTTCACTGTGCAGCAGCAGGAGCACATCCTCAGTGCCTGGAACTCCTCATCCAGGCTGGATTTGATGTGAACTTCATGCTGGATCAGAGAATTAACAAA
CACTACGATGACCACAGGAAGTCAGCTTTGTATTTTGCTGTATCAAACAGTGACCTCTCTTCAGTCAAGCTGCTTCTGAGTGCTGGAGCTCTGCCTAATCAAGAC
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>ASB14|142686|protein
MDNYTSDEDIDEDFDTQLIIQQSLQDIYKPGTAQHAPKDESLHSFLSADYKKIVETIEKGKEDALSHLTKYHSAFGEADEIGWIPLHKAAVQLNRKILEITLSAS
DPSLWEQTTHNGETPLFLAVSSCLLENATFLLLNGCNPNAKNFEGNSPLLAAVLRDCYDMAALLINYGADVNLRCANERTALHEAAKLGREDMVKLMLVSGAHPD
PQSTYGFTPLALAAQSGHTEIMEMLLRKGANAHGQASDSSSILLEAASGGNPDAVALLLEYGADANIPKNSGHLPIHVAADRGHLLALKILIPVTDLAAIKQSGI
SPVHCAAAGAHPQCLELLIQAGFDVNFMLDQRINKHYDDHRKSALYFAVSNSDLSSVKLLLSAGALPNQDPVNCLQIALRMGNYELISLLLRHGANVNYFCRVNP
LHFPSALQYTLKDEVMLRMLLNYGYDTERCFDCPHGDKVHPSYTVEGWTSTVIKDTKFCEVITLSWLQHLSGKVVRVMLDYVDQVRICSKLKAVLQKQGIWSEIH
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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 (2) 0 (0) 0 (0) 0 (0) 0 (2)
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
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
C Yuen RK, 2017 1625 - 237 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
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