AutismKB 2.0

Evidence Details for SNTG2


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Basic Information Top
Gene Symbol:SNTG2 ( G2SYN,MGC133174,SYN5 )
Gene Full Name: syntrophin, gamma 2
Band: 2p25.3
Quick LinksEntrez ID:54221; OMIM: 608715; Uniprot ID:SNTG2_HUMAN; ENSEMBL ID: ENSG00000172554; HGNC ID: 13741
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SNTG2|54221|nucleotide
ATGGGCACCGAGGGACCCCCGCCCCCGGCCGCCTCCCGCGGACGCCAGGGCTGCCTGCTGGTACCTGCGCGGACGAAAACCACTATTGCTCTGTTGTATGATGAA
GAGTCCGAAAATGCCTATGACATCCGGCTGAAGCTGACGAAAGAGGTGCTGACAATTCAGAAACAAGATGTTGTCTGTGTGGGCGGAAGCCACCAGGGCAGGAAT
CGCAGAACTGTTACACTCCGCAGACAGCCAGTTGGCGGCTTGGGCCTGAGTATAAAGGGAGGTTCTGAGCACAACGTCCCTGTCGTCATATCAAAAATATTCGAA
GACCAAGCAGCTGACCAGACAGGGATGTTGTTCGTAGGAGATGCTGTTCTCCAGGTTAATGGCATACATGTAGAAAATGCAACTCATGAAGAAGTGGTGCATCTG
CTGAGAAATGCTGGCGATGAAGTTACCATCACCGTTGAGTATCTCAGGGAAGCGCCGGCATTTCTGAAGCTCCCGTTAGGGTCCCCAGGGCCATCCAGCGACCAC
AGCAGTGGGGCCTCCTCTCCCCTCTTTGACAGCGGTTTGCATCTGAACGGAAACTCCAGTACCACAGCCCCATCGTCACCTTCCTCGCCCATAGCTAAGGACCCG
AGGTATGAGAAGCGCTGGCTGGACACCTTGTCCGTGCCTCTGTCCATGGCTCGCATCTCAAGGTACAAAGCCGGAACGGAAAAATTAAGGTGGAATGCGTTCGAG
GTGCTCGCCCTGGACGGAGTCAGCTCTGGGATCCTCCGGTTTTACACAGCCCAGGATGGCACCGACTGGCTGCGGGCGGTCTCAGCCAACATCAGGGAGCTGACA
CTTCAGAACATGAAGATGGCGAACAAATGCTGCTCTCCTTCCGACCAGGTTGTGCATATGGGGTGGGTAAATGAGAAACTCCAAGGAGCTGACTCCTCTCAAACC
TTCAGACCCAAGTTCCTAGCACTGAAGGGCCCGTCCTTCTACGTTTTCAGCACTCCTCCGGTGAGCACATTCGATTGGGTGCGAGCAGAAAGGACCTATCACCTC
TGTGAGGTGCTATTTAAAGTTCACAAGTTCTGGCTCACAGAGGACTGCTGGTTGCAAGCAAACTTGTATCTGGGTCTTCAAGATTTTGACTTTGAGGACCAGAGG
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>SNTG2|54221|protein
MGTEGPPPPAASRGRQGCLLVPARTKTTIALLYDEESENAYDIRLKLTKEVLTIQKQDVVCVGGSHQGRNRRTVTLRRQPVGGLGLSIKGGSEHNVPVVISKIFE
DQAADQTGMLFVGDAVLQVNGIHVENATHEEVVHLLRNAGDEVTITVEYLREAPAFLKLPLGSPGPSSDHSSGASSPLFDSGLHLNGNSSTTAPSSPSSPIAKDP
RYEKRWLDTLSVPLSMARISRYKAGTEKLRWNAFEVLALDGVSSGILRFYTAQDGTDWLRAVSANIRELTLQNMKMANKCCSPSDQVVHMGWVNEKLQGADSSQT
FRPKFLALKGPSFYVFSTPPVSTFDWVRAERTYHLCEVLFKVHKFWLTEDCWLQANLYLGLQDFDFEDQRPYCFSIVAGHGKSHVFNVELGSELAMWEKSFQRAT
FMEVQRTGSRTYMCSWQGEMLCFTVDFALGFTCFESKTKNVLWRFKFSQLKGSSDDGKTRVKLLFQNLDTKQIETKELEFQDLRAVLHCIHSFIAAKVASVDPGF
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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 (3) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 1 (1) 14 (7)
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
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Yuen RK, 2016 - WGSASD 200 - - - 200 - -
Linkage Studies Top