AutismKB 2.0

Evidence Details for DCTN4


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Basic Information Top
Gene Symbol:DCTN4 ( - )
Gene Full Name: dynactin 4 (p62)
Band: 5q33.1
Quick LinksEntrez ID:51164; OMIM: NA; Uniprot ID:DCTN4_HUMAN; ENSEMBL ID: ENSG00000132912; HGNC ID: 15518
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DCTN4|51164|nucleotide
ATGGCGTCCTTGCTGCAGTCGGACCGGGTTCTCTATCTAGTCCAGGGAGAAAAGAAGGTTCGGGCCCCGCTCTCGCAACTCTACTTCTGCCGCTATTGTAGCGAA
CTGCGGTCGCTGGAATGTGTGTCTCACGAGGTGGACTCCCATTATTGTCCCAGTTGTTTAGAAAATATGCCATCGGCTGAAGCCAAACTAAAAAAGAATAGATGT
GCCAATTGTTTTGACTGTCCTGGCTGCATGCACACCCTCTCTACTCGGGCCACGAGCATCTCCACACAGCTTCCAGATGACCCAGCCAAGACCACCATGAAGAAA
GCCTATTACCTGGCATGTGGATTTTGTCGCTGGACGTCTAGAGATGTGGGCATGGCAGACAAATCTGTAGCTAGTGGCGGTTGGCAGGAACCTGAAAATCCTCAC
ACACAACGGATGAACAAATTGATTGAATATTACCAGCAGCTTGCTCAGAAAGAGAAGGTTGAGCGAGATCGCAAGAAACTGGCACGACGTAGAAACTATATGCCT
CTGGCTTTTTCGCAACATACTATTCATGTAGTGGACAAATATGGTCTTGGAACCAGGCTTCAGCGACCACGAGCTGGTGCATCCATCAGTACCCTTGCCGGACTT
TCCCTTAAAGAAGGAGAGGATCAGAAAGAGATAAAGATTGAGCCAGCTCAGGCTGTGGATGAAGTGGAACCTCTACCTGAAGACTATTATACAAGACCAGTAAAT
TTAACAGAGGTAACAACCCTTCAGCAGCGTCTGTTACAGCCTGACTTCCAGCCAGTCTGTGCTTCACAGCTCTATCCTCGCCACAAACATCTTCTGATCAAACGG
TCCCTGCGCTGCCGTAAATGTGAACATAATTTGAGCAAGCCAGAATTTAACCCAACGTCAATCAAATTCAAAATCCAGCTGGTCGCTGTCAATTATATTCCAGAA
GTGAGAATCATGTCAATTCCCAACCTTCGCTACATGAAGGAGAGCCAGGTCCTCCTGACTCTTACAAATCCAGTTGAGAACCTCACCCATGTGACTCTCTTCGAG
TGTGAGGAGGGGGACCCTGATGATATCAACAGCACTGCTAAGGTGGTGGTGCCTCCCAAAGAGCTCGTTTTAGCTGGCAAGGATGCAGCAGCAGAGTACGATGAG
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>DCTN4|51164|protein
MASLLQSDRVLYLVQGEKKVRAPLSQLYFCRYCSELRSLECVSHEVDSHYCPSCLENMPSAEAKLKKNRCANCFDCPGCMHTLSTRATSISTQLPDDPAKTTMKK
AYYLACGFCRWTSRDVGMADKSVASGGWQEPENPHTQRMNKLIEYYQQLAQKEKVERDRKKLARRRNYMPLAFSQHTIHVVDKYGLGTRLQRPRAGASISTLAGL
SLKEGEDQKEIKIEPAQAVDEVEPLPEDYYTRPVNLTEVTTLQQRLLQPDFQPVCASQLYPRHKHLLIKRSLRCRKCEHNLSKPEFNPTSIKFKIQLVAVNYIPE
VRIMSIPNLRYMKESQVLLTLTNPVENLTHVTLFECEEGDPDDINSTAKVVVPPKELVLAGKDAAAEYDELAEPQDFQDDPDIIAFRKANKVGIFIKVTPQREEG
EVTVCFKMKHDFKNLAAPIRPIEESDQGTEVIWLTQHVELSLGPLLP
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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 (0) 0 (1) 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
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Lim ET, 2017 - 5947 376 Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
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