AutismKB 2.0

Evidence Details for MOSPD2


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Basic Information Top
Gene Symbol:MOSPD2 ( DKFZp686C1553,MGC26706 )
Gene Full Name: motile sperm domain containing 2
Band: Xp22.2
Quick LinksEntrez ID:158747; OMIM: NA; Uniprot ID:MSPD2_HUMAN; ENSEMBL ID: ENSG00000130150; HGNC ID: 28381
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MOSPD2|158747|nucleotide
ATGCTCGATGAGAGTTTTCAGTGGAGGAAAGAAATTTCTGTCAATGACCTTAATGAATCCTCCATTCCCAGATGGTTATTGGAAATTGGTGTTATTTATCTCCAT
GGTTATGACAAAGAAGGTAACAAATTGTTCTGGATCAGGGTGAAGTATCATGTAAAAGACCAGAAAACCATATTGGACAAAAAGAAGCTCATAGCATTCTGGTTG
GAACGTTATGCTAAGAGGGAAAATGGGAAACCTGTAACAGTGATGTTTGACCTGTCAGAAACTGGAATAAATAGCATTGACATGGACTTTGTACGCTTTATCATC
AACTGCTTTAAGGTTTATTACCCTAAATACCTCTCAAAAATAGTGATCTTTGATATGCCTTGGTTAATGAATGCTGCTTTCAAAATTGTGAAAACCTGGCTTGGT
CCAGAAGCAGTGAGCTTGTTGAAGTTTACAAGCAAAAATGAAGTCCAGGACTATGTCAGTGTAGAATACCTGCCTCCCCACATGGGTGGAACTGATCCTTTCAAG
TATAGCTATCCACCACTAGTAGATGATGACTTCCAGACCCCACTGTGTGAGAATGGGCCTATTACCAGTGAGGATGAAACTTCAAGTAAAGAAGACATAGAAAGT
GATGGCAAAGAAACATTGGAAACAATTTCTAATGAAGAACAAACACCTCTTCTTAAAAAGATTAACCCAACCGAATCTACTTCCAAAGCAGAAGAAAATGAAAAA
GTTGATTCAAAAGTGAAAGCTTTCAAGAAACCATTGAGTGTATTTAAAGGCCCCTTACTACACATCAGCCCAGCAGAAGAACTGTACTTTGGAAGTACAGAATCC
GGAGAGAAGAAAACCTTAATAGTGTTGACAAATGTAACTAAAAATATAGTGGCATTTAAGGTGAGAACAACAGCTCCAGAAAAATACAGAGTCAAGCCAAGCAAT
AGCAGCTGTGACCCGGGTGCATCAGTGGATATAGTTGTGTCTCCCCATGGGGGTTTAACAGTCTCTGCCCAAGACCGTTTTCTGATAATGGCTGCAGAAATGGAA
CAGTCATCTGGCACAGGCCCAGCAGAATTAACTCAGTTTTGGAAAGAAGTTCCCAGAAACAAAGTGATGGAACATAGGTTAAGATGCCATACTGTTGAAAGCAGT
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>MOSPD2|158747|protein
MLDESFQWRKEISVNDLNESSIPRWLLEIGVIYLHGYDKEGNKLFWIRVKYHVKDQKTILDKKKLIAFWLERYAKRENGKPVTVMFDLSETGINSIDMDFVRFII
NCFKVYYPKYLSKIVIFDMPWLMNAAFKIVKTWLGPEAVSLLKFTSKNEVQDYVSVEYLPPHMGGTDPFKYSYPPLVDDDFQTPLCENGPITSEDETSSKEDIES
DGKETLETISNEEQTPLLKKINPTESTSKAEENEKVDSKVKAFKKPLSVFKGPLLHISPAEELYFGSTESGEKKTLIVLTNVTKNIVAFKVRTTAPEKYRVKPSN
SSCDPGASVDIVVSPHGGLTVSAQDRFLIMAAEMEQSSGTGPAELTQFWKEVPRNKVMEHRLRCHTVESSKPNTLTLKDNAFNMSDKTSEDICLQLSRLLESNRK
LEDQVQRCIWFQQLLLSLTMLLLAFVTSFFYLLYS
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Vazna, 2010 Czech aCGHASD - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
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
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