AutismKB 2.0

Evidence Details for DISP1


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Basic Information Top
Gene Symbol:DISP1 ( DISPA,DKFZp434I0428,FLJ43740,MGC104180,MGC13130,MGC16796 )
Gene Full Name: dispatched homolog 1 (Drosophila)
Band: 1q41
Quick LinksEntrez ID:84976; OMIM: 607502; Uniprot ID:DISP1_HUMAN; ENSEMBL ID: ENSG00000154309; HGNC ID: 19711
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DISP1|84976|nucleotide
ATGGCTATGAGCAATGGAAACAATGATTTTGTGGTTCTGAGCAACAGCAGCATCGCAACCAGTGCTGCTAACCCGAGTCCCCTCACCCCCTGTGATGGAGACCAT
GCAGCCCAGCAGCTCACACCCAAAGAAGCAACAAGAACAAAAGTGAGTCCAAATGGATGCCTGCAACTTAATGGCACGGTCAAATCATCCTTTCTGCCTTTAGAC
AACCAAAGAATGCCTCAGATGTTACCCCAATGCTGCCATCCTTGCCCATACCATCACCCTTTGACTAGCCATAGCAGTCACCAAGAGTGCCATCCCGAGGCTGGC
CCTGCAGCACCCTCTGCTTTGGCCTCGTGTTGCATGCAGCCACACTCCGAGTATTCTGCATCTCTTTGTCCAAATCATTCACCTGTGTATCAGACTACGTGCTGT
CTTCAGCCCTCTCCATCCTTCTGCCTGCATCATCCGTGGCCTGACCATTTTCAGCATCAGCCTGTGCAACAGCACATAGCCAACATAAGACCATCCAGACCTTTC
AAGTTGCCAAAAAGTTATGCAGCCCTGATAGCCGACTGGCCGGTGGTGGTCTTGGGCATGTGCACCATGTTCATCGTAGTCTGTGCCTTGGTTGGAGTATTAGTG
CCAGAGCTCCCTGACTTCTCTGATCCATTGCTGGGTTTTGAACCAAGAGGAACAGCAATAGGCCAGAGATTGGTCACATGGAATAATATGGTGAAAAATACAGGA
TACAAAGCAACATTAGCAAATTATCCCTTTAAATATGCAGATGAACAAGCCAAAAGCCATCGGGATGATAGATGGTCAGATGATCATTATGAAAGAGAGAAAAGA
GAAGTTGACTGGAACTTCCACAAGGACAGCTTTTTCTGCGACGTTCCAAGTGACCGATATTCCAGAGTGGTATTTACTTCATCTGGAGGGGAGACATTATGGAAT
TTACCTGCAATTAAATCAATGTGCAATGTAGATAATTCCAGGATCAGATCTCATCCCCAGTTTGGTGATCTCTGCCAGAGGACCACTGCTGCCTCCTGCTGCCCC
AGCTGGACACTGGGAAACTACATCGCCATTCTGAACAATAGATCGTCCTGTCAGAAAATAGTTGAGCGAGACGTTTCTCATACCTTGAAGCTGCTTCGGACTTGT
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>DISP1|84976|protein
MAMSNGNNDFVVLSNSSIATSAANPSPLTPCDGDHAAQQLTPKEATRTKVSPNGCLQLNGTVKSSFLPLDNQRMPQMLPQCCHPCPYHHPLTSHSSHQECHPEAG
PAAPSALASCCMQPHSEYSASLCPNHSPVYQTTCCLQPSPSFCLHHPWPDHFQHQPVQQHIANIRPSRPFKLPKSYAALIADWPVVVLGMCTMFIVVCALVGVLV
PELPDFSDPLLGFEPRGTAIGQRLVTWNNMVKNTGYKATLANYPFKYADEQAKSHRDDRWSDDHYEREKREVDWNFHKDSFFCDVPSDRYSRVVFTSSGGETLWN
LPAIKSMCNVDNSRIRSHPQFGDLCQRTTAASCCPSWTLGNYIAILNNRSSCQKIVERDVSHTLKLLRTCAKHYQNGTLGPDCWDMAARRKDQLKCTNVPRKCTK
YNAVYQILHYLVDKDFMTPKTADYATPALKYSMLFSPTEKGESMMNIYLDNFENWNSSDGVTTITGIEFGIKHSLFQDYLLMDTVYPAIAIVIVLLVMCVYTKSM
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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 (1) 0 (0) 0 (1) 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
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (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