AutismKB 2.0

Evidence Details for SH3PXD2A


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Basic Information Top
Gene Symbol:SH3PXD2A ( FISH,SH3MD1,TSK5 )
Gene Full Name: SH3 and PX domains 2A
Band: 10q24.33
Quick LinksEntrez ID:9644; OMIM: NA; Uniprot ID:SPD2A_HUMAN; ENSEMBL ID: ENSG00000107957; HGNC ID: 23664
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SH3PXD2A|9644|nucleotide
ATGCTCGCCTACTGCGTGCAGGATGCCACCGTGGTGGACGTGGAGAAGCGGAGGAACCCCTCCAAGCACTACGTATACATAATCAATGTGACCTGGTCTGACTCC
ACCTCCCAGACTATCTACCGGAGGTACAGCAAGTTCTTTGACCTGCAGATGCAGCTTTTGGATAAGTTTCCCATTGAAGGTGGCCAGAAGGACCCCAAGCAAAGG
ATCATCCCCTTCCTCCCAGGCAAGATCCTCTTCCGCAGAAGCCACATCCGGGACGTAGCTGTGAAGAGACTGAAGCCCATCGATGAATACTGCCGGGCACTTGTC
CGGCTGCCCCCCCACATCTCACAGTGTGACGAAGTCTTCCGGTTCTTCGAGGCTCGACCCGAGGATGTCAACCCTCCAAAAGAGGACTATGGCAGTTCCAAGAGG
AAATCAGTGTGGCTGTCCAGCTGGGCTGAGTCGCCCAAGAAGGACGTGACAGGTGCCGACGCCACCGCCGAGCCCATGATCCTGGAACAGTACGTGGTGGTGTCC
AACTATAAGAAGCAGGAGAACTCGGAGCTGAGCCTCCAGGCCGGGGAGGTGGTGGATGTCATCGAGAAGAACGAGAGCGGCTGGTGGTTCGTGAGCACTTCTGAG
GAGCAGGGCTGGGTCCCTGCCACCTACCTGGAGGCCCAGAATGGTACTCGGGATGACTCCGACATCAACACCTCTAAGACTGGAGAAGAGGAGAAGTATGTCACC
GTGCAGCCTTACACCAGCCAAAGCAAGGACGAGATTGGCTTTGAGAAGGGCGTCACAGTGGAGGTGATCCGGAAGAATCTGGAAGGCTGGTGGTATATCAGATAC
CTGGGCAAAGAGGGCTGGGCGCCAGCATCCTACCTGAAGAAGGCCAAGGATGACCTGCCAACCCGGAAGAAGAACCTGGCCGGCCCAGTGGAGATCATTGGGAAC
ATCATGGAGATCAGCAACCTGCTGAACAAGAAGGCGTCTGGGGACAAGGAAACTCCACCAGCCGAAGGCGAGGGCCATGAGGCCCCCATTGCCAAGAAGGAGATC
AGCCTGCCCATCCTCTGCAATGCCTCCAATGGCAGTGCCGTGGGCGTTCCTGACAGGACTGTCTCCAGGCTGGCCCAGGGCTCTCCAGCTGTGGCCAGGATTGCC
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>SH3PXD2A|9644|protein
MLAYCVQDATVVDVEKRRNPSKHYVYIINVTWSDSTSQTIYRRYSKFFDLQMQLLDKFPIEGGQKDPKQRIIPFLPGKILFRRSHIRDVAVKRLKPIDEYCRALV
RLPPHISQCDEVFRFFEARPEDVNPPKEDYGSSKRKSVWLSSWAESPKKDVTGADATAEPMILEQYVVVSNYKKQENSELSLQAGEVVDVIEKNESGWWFVSTSE
EQGWVPATYLEAQNGTRDDSDINTSKTGEEEKYVTVQPYTSQSKDEIGFEKGVTVEVIRKNLEGWWYIRYLGKEGWAPASYLKKAKDDLPTRKKNLAGPVEIIGN
IMEISNLLNKKASGDKETPPAEGEGHEAPIAKKEISLPILCNASNGSAVGVPDRTVSRLAQGSPAVARIAPQRAQISSPNLRTRPPPRRESSLGFQLPKPPEPPS
VEVEYYTIAEFQSCISDGISFRGGQKAEVIDKNSGGWWYVQIGEKEGWAPASYIDKRKKPNLSRRTSTLTRPKVPPPAPPSKPKEAEEGPTGASESQDSPRKLKY
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top