AutismKB 2.0

Evidence Details for PCCB


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Basic Information Top
Gene Symbol:PCCB ( DKFZp451E113 )
Gene Full Name: propionyl CoA carboxylase, beta polypeptide
Band: 3q22.3
Quick LinksEntrez ID:5096; OMIM: 232050; Uniprot ID:PCCB_HUMAN; ENSEMBL ID: ENSG00000114054; HGNC ID: 8654
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PCCB|5096|nucleotide
ATGGCGGCGGCATTACGGGTGGCGGCGGTCGGGGCAAGGCTCAGCGTTCTGGCGAGCGGTCTCCGCGCCGCGGTCCGCAGCCTTTGCAGCCAGGCCACCTCTGTT
AACGAACGCATCGAAAACAAGCGCCGGACCGCGCTGCTGGGAGGGGGCCAACGCCGTATTGACGCGCAGCACAAGCGAGGAAAGCTAACAGCCAGGGAGAGGATC
AGTCTCTTGCTGGACCCTGGCAGCTTTGTTGAGAGCGACATGTTTGTGGAACACAGATGTGCAGATTTTGGAATGGCTGCTGATAAGAATAAGTTTCCTGGAGAC
AGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTATGTCTTCAGTCAGGATTTTACAGTTTTTGGAGGCAGTCTGTCAGGAGCACATGCCCAAAAG
ATCTGCAAAATCATGGACCAGGCCATAACGGTGGGGGCTCCAGTGATTGGGCTGAATGACTCTGGGGGAGCACGGATCCAAGAAGGAGTGGAGTCTTTGGCTGGC
TATGCAGACATCTTTCTGAGGAATGTTACGGCATCCGGAGTCATCCCTCAGATTTCTCTGATCATGGGCCCATGTGCTGGTGGGGCCGTCTACTCCCCAGCCCTA
ACAGACTTCACGTTCATGGTAAAGGACACCTCCTACCTGTTCATCACTGGCCCTGATGTTGTGAAGTCTGTCACCAATGAGGATGTTACCCAGGAGGAGCTCGGT
GGTGCCAAGACCCACACCACCATGTCAGGTGTGGCCCACAGAGCTTTTGAAAATGATGTTGATGCCTTGTGTAATCTCCGGGATTTCTTCAACTACCTGCCCCTG
AGCAGTCAGGACCCGGCTCCCGTCCGTGAGTGCCACGATCCCAGTGACCGTCTGGTTCCTGAGCTTGACACAATTGTCCCTTTGGAATCAACCAAAGCCTACAAC
ATGGTGGACATCATACACTCTGTTGTTGATGAGCGTGAATTTTTTGAGATCATGCCCAATTATGCCAAGAACATCATTGTTGGTTTTGCAAGAATGAATGGGAGG
ACTGTTGGAATTGTTGGCAACCAACCTAAGGTGGCCTCAGGATGCTTGGATATTAATTCATCTGTGAAAGGGGCTCGTTTTGTCAGATTCTGTGATGCATTCAAT
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>PCCB|5096|protein
MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRTALLGGGQRRIDAQHKRGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKFPGD
SVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPAL
TDFTFMVKDTSYLFITGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPLSSQDPAPVRECHDPSDRLVPELDTIVPLESTKAYN
MVDIIHSVVDEREFFEIMPNYAKNIIVGFARMNGRTVGIVGNQPKVASGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFA
EATVPKVTVITRKAYGGAYDVMSSKHLCGDTNYAWPTAEIAVMGAKGAVEIIFKGHENVEAAQAEYIEKFANPFPAAVRGFVDDIIQPSSTRARICCDLDVLASK
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 3 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top