AutismKB 2.0

Evidence Details for STAC2


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Basic Information Top
Gene Symbol:STAC2 ( 24b2,24b2/STAC2,MGC129694 )
Gene Full Name: SH3 and cysteine rich domain 2
Band: 17q12
Quick LinksEntrez ID:342667; OMIM: NA; Uniprot ID:STAC2_HUMAN; ENSEMBL ID: ENSG00000141750; HGNC ID: 23990
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>STAC2|342667|nucleotide
ATGACCGAGATGAGCGAGAAGGAGAACGAACCGGATGACGCGGCCACCCACAGCCCCCCAGGGACCGTCTCCGCCCTCCAGGAAACCAAGCTCCAGCGATTCAAG
CGCTCCCTCTCCCTCAAGACCATCCTCCGAAGTAAGAGCTTGGAGAACTTCTTCCTTCGCTCGGGCTCTGAGCTCAAGTGCCCCACCGAGGTGCTGCTGACGCCC
CCAACCCCACTGCCCCCTCCCTCCCCACCACCCACAGCCTCGGACAGGGGCCTGGCTACCCCATCCCCCTCCCCATGCCCAGTCCCACGCCCCCTGGCAGCGCTC
AAACCAGTGAGGCTGCACAGCTTCCAGGAACATGTCTTCAAGCGAGCTAGCCCTTGTGAGCTGTGCCACCAGCTCATCGTAGGAAACTCCAAACAGGGCTTGCGA
TGTAAGATGTGCAAAGTCAGCGTCCACCTCTGGTGCTCTGAGGAGATCTCCCACCAGCAATGCCCAGGCAAGACGTCCACCTCCTTCCGCCGCAACTTCAGTTCC
CCTCTCCTGGTGCATGAGCCGCCACCAGTCTGTGCCACAAGCAAAGAGTCCCCACCCACTGGGGACAGTGGGAAGGTGGACCCTGTCTACGAGACCCTGCGCTAT
GGCACCTCCCTGGCACTGATGAACCGCTCCAGTTTCAGCAGCACCTCTGAGTCCCCGACAAGGAGCCTGAGTGAGCGGGATGAGCTGACCGAGGATGGGGAAGGC
AGCATCCGCAGCTCTGAGGAGGGGCCTGGTGACAGTGCATCTCCAGTATTCACAGCCCCAGCAGAGAGTGAAGGGCCAGGACCAGAGGAGAAGAGTCCTGGACAG
CAGCTCCCCAAAGCCACCCTGCGGAAGGATGTGGGGCCCATGTACTCCTACGTTGCACTCTACAAGTTTCTGCCCCAGGAGAACAATGATCTGGCTCTGCAGCCT
GGAGATCGGATCATGCTGGTGGATGACTCTAACGAGGACTGGTGGAAGGGCAAGATCGGCGACCGGGTTGGCTTCTTCCCAGCTAATTTTGTGCAACGGGTGAGG
CCAGGCGAGAATGTTTGGCGCTGCTGCCAACCCTTCTCCGGGAACAAGGAACAGGGTTACATGAGCCTCAAGGAGAACCAGATCTGCGTGGGCGTGGGCAGAAGC
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>STAC2|342667|protein
MTEMSEKENEPDDAATHSPPGTVSALQETKLQRFKRSLSLKTILRSKSLENFFLRSGSELKCPTEVLLTPPTPLPPPSPPPTASDRGLATPSPSPCPVPRPLAAL
KPVRLHSFQEHVFKRASPCELCHQLIVGNSKQGLRCKMCKVSVHLWCSEEISHQQCPGKTSTSFRRNFSSPLLVHEPPPVCATSKESPPTGDSGKVDPVYETLRY
GTSLALMNRSSFSSTSESPTRSLSERDELTEDGEGSIRSSEEGPGDSASPVFTAPAESEGPGPEEKSPGQQLPKATLRKDVGPMYSYVALYKFLPQENNDLALQP
GDRIMLVDDSNEDWWKGKIGDRVGFFPANFVQRVRPGENVWRCCQPFSGNKEQGYMSLKENQICVGVGRSKDADGFIRVSSGKKRGLVPVDALTEI

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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 (2) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top