AutismKB 2.0

Evidence Details for ACRBP


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Basic Information Top
Gene Symbol:ACRBP ( CT23,FLJ51160,OY-TES-1,SP32 )
Gene Full Name: acrosin binding protein
Band: 12p13.31
Quick LinksEntrez ID:84519; OMIM: 608352; Uniprot ID:ACRBP_HUMAN; ENSEMBL ID: ENSG00000111644; HGNC ID: 17195
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ACRBP|84519|nucleotide
ATGAGGAAGCCAGCCGCTGGCTTCCTTCCCTCACTCCTGAAGGTGCTGCTCCTGCCTCTGGCACCTGCCGCAGCCCAGGATTCGACTCAGGCCTCCACTCCAGGC
AGCCCTCTCTCTCCTACCGAATACGAACGCTTCTTCGCACTGCTGACTCCAACCTGGAAGGCAGAGACTACCTGCCGTCTCCGTGCAACCCACGGCTGCCGGAAT
CCCACACTCGTCCAGCTGGACCAATATGAAAACCACGGCTTAGTGCCCGATGGTGCTGTCTGCTCCAACCTCCCTTATGCCTCCTGGTTTGAGTCTTTCTGCCAG
TTCACTCACTACCGTTGCTCCAACCACGTCTACTATGCCAAGAGAGTCCTGTGTTCCCAGCCAGTCTCTATTCTCTCACCTAACACTCTCAAGGAGATAGAAGCT
TCAGCTGAAGTCTCACCCACCACGATGACCTCCCCCATCTCACCCCACTTCACAGTGACAGAACGCCAGACCTTCCAGCCCTGGCCTGAGAGGCTCAGCAACAAC
GTGGAAGAGCTCCTACAATCCTCCTTGTCCCTGGGAGGCCAGGAGCAAGCGCCAGAGCACAAGCAGGAGCAAGGAGTGGAGCACAGGCAGGAGCCGACACAAGAA
CACAAGCAGGAAGAGGGGCAGAAACAGGAAGAGCAAGAAGAGGAACAGGAAGAGGAGGGAAAGCAGGAAGAAGGACAGGGGACTAAGGAGGGACGGGAGGCTGTG
TCTCAGCTGCAGACAGACTCAGAGCCCAAGTTTCACTCTGAATCTCTATCTTCTAACCCTTCCTCTTTTGCTCCCCGGGTACGAGAAGTAGAGTCTACTCCTATG
ATAATGGAGAACATCCAGGAGCTCATTCGATCAGCCCAGGAAATAGATGAAATGAATGAAATATATGATGAGAACTCCTACTGGAGAAACCAAAACCCTGGCAGC
CTCCTGCAGCTGCCCCACACAGAGGCCTTGCTGGTGCTGTGCTATTCGATCGTGGAGAATACCTGCATCATAACCCCCACAGCCAAGGCCTGGAAGTACATGGAG
GAGGAGATCCTTGGTTTCGGGAAGTCGGTCTGTGACAGCCTTGGGCGGCGACACATGTCTACCTGTGCCCTCTGTGACTTCTGCTCCTTGAAGCTGGAGCAGTGC
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>ACRBP|84519|protein
MRKPAAGFLPSLLKVLLLPLAPAAAQDSTQASTPGSPLSPTEYERFFALLTPTWKAETTCRLRATHGCRNPTLVQLDQYENHGLVPDGAVCSNLPYASWFESFCQ
FTHYRCSNHVYYAKRVLCSQPVSILSPNTLKEIEASAEVSPTTMTSPISPHFTVTERQTFQPWPERLSNNVEELLQSSLSLGGQEQAPEHKQEQGVEHRQEPTQE
HKQEEGQKQEEQEEEQEEEGKQEEGQGTKEGREAVSQLQTDSEPKFHSESLSSNPSSFAPRVREVESTPMIMENIQELIRSAQEIDEMNEIYDENSYWRNQNPGS
LLQLPHTEALLVLCYSIVENTCIITPTAKAWKYMEEEILGFGKSVCDSLGRRHMSTCALCDFCSLKLEQCHSEASLQRQQCDTSHKTPFVSPLLASQSLSIGNQV
GSPESGRFYGLDLYGGLHMDFWCARLATKGCEDVRVSGWLQTEFLSFQDGDFPTKICDTDYIQYPNYCSFKSQQCLMRNRNRKVSRMRCLQNETYSALSPGKSED
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top