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 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top