AutismKB 2.0

Evidence Details for HSPA12B


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Basic Information Top
Gene Symbol:HSPA12B ( C20orf60,FLJ32150,MGC131912,dJ1009E24.2 )
Gene Full Name: heat shock 70kD protein 12B
Band: 20p13
Quick LinksEntrez ID:116835; OMIM: 610702; Uniprot ID:HS12B_HUMAN; ENSEMBL ID: ENSG00000132622; HGNC ID: 16193
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HSPA12B|116835|nucleotide
ATGTTGGCTGTCCCGGAGATGGGCCTGCAGGGGCTGTACATCGGCTCCAGCCCGGAGCGGTCCCCAGTGCCTAGCCCACCCGGCTCCCCGAGGACCCAGGAAAGC
TGCGGCATTGCCCCCCTCACACCCTCGCAGTCTCCAAAACCCGAGGTCCGAGCCCCCCAGCAGGCCTCCTTCTCTGTGGTGGTGGCCATTGACTTCGGCACCACG
TCTAGTGGCTATGCTTTCAGCTTTGCCAGTGACCCTGAGGCCATCCACATGATGAGGAAATGGGAGGGCGGAGACCCGGGCGTGGCCCACCAGAAGACCCCGACC
TGCCTGCTGCTGACTCCGGAGGGCGCCTTCCACAGCTTTGGCTACACCGCCCGCGATTACTACCATGACCTGGACCCCGAAGAGGCGCGGGACTGGCTCTACTTC
GAGAAGTTCAAGATGAAGATCCACAGCGCCACGGATCTCACCTTGAAGACCCAGCTAGAGGCAGTAAATGGAAAGACGATGCCCGCCCTGGAGGTGTTCGCCCAT
GCCCTGCGCTTCTTCAGGGAGCACGCCCTTCAGCTGAGGGAGCAGAGCCCATCGCTGCCAGAGAAGGACACTGTGCGCTGGGTGTTGACGGTGCCTGCCATCTGG
AAACAGCCAGCCAAGCAGTTCATGCGGGAGGCTGCCTACCTGGCTGGACTAGTGTCCCGAGAGAATGCAGAGCAGCTACTCATCGCCCTGGAGCCCGAGGCCGCC
TCGGTATACTGCCGCAAGCTGCGCCTGCACCAGCTCCTGGACCTGAGTGGCCGGGCCCCAGGTGGTGGGCGCCTGGGTGAGCGCCGCTCCATCGACTCCAGCTTC
CGTCAGGCTCGGGAGCAGCTGCGAAGGTCCCGCCACAGCCGCACGTTCCTGGTGGAGTCAGGCGTAGGAGAGCTGTGGGCAGAGATGCAAGCAGGAGACCGCTAC
GTGGTGGCCGACTGCGGCGGAGGCACCGTGGACCTGACGGTGCACCAGCTGGAGCAGCCCCATGGCACCCTCAAGGAGCTCTACAAGGCATCTGGGGGCCCTTAT
GGCGCGGTGGGCGTGGACCTGGCCTTCGAGCAGCTGCTGTGCCGCATCTTCGGCGAGGACTTCATCGCCACCTTCAAAAGGCAACGGCCGGCAGCCTGGGTAGAT
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>HSPA12B|116835|protein
MLAVPEMGLQGLYIGSSPERSPVPSPPGSPRTQESCGIAPLTPSQSPKPEVRAPQQASFSVVVAIDFGTTSSGYAFSFASDPEAIHMMRKWEGGDPGVAHQKTPT
CLLLTPEGAFHSFGYTARDYYHDLDPEEARDWLYFEKFKMKIHSATDLTLKTQLEAVNGKTMPALEVFAHALRFFREHALQLREQSPSLPEKDTVRWVLTVPAIW
KQPAKQFMREAAYLAGLVSRENAEQLLIALEPEAASVYCRKLRLHQLLDLSGRAPGGGRLGERRSIDSSFRQAREQLRRSRHSRTFLVESGVGELWAEMQAGDRY
VVADCGGGTVDLTVHQLEQPHGTLKELYKASGGPYGAVGVDLAFEQLLCRIFGEDFIATFKRQRPAAWVDLTIAFEARKRTAGPHRAGALNISLPFSFIDFYRKQ
RGHNVETALRRSSVNFVKWSSQGMLRMSCEAMNELFQPTVSGIIQHIEALLARPEVQGVKLLFLVGGFAESAVLQHAVQAALGARGLRVVVPHDVGLTILKGAVL
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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top