AutismKB 2.0

Evidence Details for PTBP2


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Basic Information Top
Gene Symbol:PTBP2 ( FLJ34897,PTB,PTBLP,brPTB,nPTB,nPTB5,nPTB6,nPTB7,nPTB8 )
Gene Full Name: polypyrimidine tract binding protein 2
Band: 1p21.3
Quick LinksEntrez ID:58155; OMIM: 608449; Uniprot ID:PTBP2_HUMAN; ENSEMBL ID: ENSG00000117569; HGNC ID: 17662
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PTBP2|58155|nucleotide
ATGGACGGAATCGTCACTGAGGTTGCAGTTGGCGTGAAGAGAGGATCTGACGAACTACTCTCAGGCAGTGTTCTCAGTAGTCCGAACTCTAATATGAGCAGCATG
GTAGTTACAGCCAATGGTAATGATAGTAAAAAATTTAAAGGAGAAGATAAAATGGATGGTGCTCCTTCTCGTGTACTTCATATTCGAAAATTACCTGGGGAAGTA
ACAGAAACTGAAGTTATTGCTTTAGGCTTACCTTTTGGTAAGGTGACCAACATCCTTATGCTGAAAGGAAAAAATCAGGCATTTTTGGAACTAGCAACCGAGGAA
GCAGCTATTACTATGGTTAATTACTATTCTGCTGTGACACCTCATCTTCGTAACCAACCAATATATATCCAGTACTCGAATCACAAAGAACTAAAGACAGATAAT
ACATTAAACCAACGTGCTCAGGCAGTTCTTCAAGCTGTGACAGCTGTCCAGACAGCAAATACTCCTCTTAGTGGCACCACAGTTAGCGAGAGTGCAGTGACTCCA
GCCCAGAGTCCAGTACTTAGAATAATTATTGACAACATGTACTACCCTGTAACACTTGATGTTCTTCACCAAATATTTTCTAAGTTTGGTGCTGTATTGAAGATA
ATCACATTTACAAAAAATAACCAGTTTCAAGCTTTGCTCCAGTATGGTGATCCAGTAAATGCTCAACAAGCAAAACTAGCCCTAGATGGTCAGAATATTTATAAT
GCCTGCTGTACCCTAAGGATTGATTTTTCCAAACTTGTGAATTTGAATGTAAAATACAACAATGATAAAAGTAGGGATTATACTCGACCTGATCTTCCATCTGGG
GATGGACAACCTGCATTGGACCCAGCTATTGCTGCAGCATTTGCCAAGGAGACATCCCTCTTAGCTGTTCCAGGAGCTCTGAGTCCTTTGGCCATTCCAAATGCT
GCTGCAGCAGCTGCTGCAGCTGCTGCTGGCCGAGTGGGTATGCCTGGAGTCTCAGCTGGTGGCAATACAGTCCTGTTGGTTAGCAATTTAAATGAAGAGATGGTT
ACGCCCCAAAGTCTGTTTACCCTCTTCGGTGTTTATGGAGATGTGCAGCGTGTGAAGATTTTATACAATAAGAAAGACAGCGCTCTAATACAGATGGCTGATGGA
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>PTBP2|58155|protein
MDGIVTEVAVGVKRGSDELLSGSVLSSPNSNMSSMVVTANGNDSKKFKGEDKMDGAPSRVLHIRKLPGEVTETEVIALGLPFGKVTNILMLKGKNQAFLELATEE
AAITMVNYYSAVTPHLRNQPIYIQYSNHKELKTDNTLNQRAQAVLQAVTAVQTANTPLSGTTVSESAVTPAQSPVLRIIIDNMYYPVTLDVLHQIFSKFGAVLKI
ITFTKNNQFQALLQYGDPVNAQQAKLALDGQNIYNACCTLRIDFSKLVNLNVKYNNDKSRDYTRPDLPSGDGQPALDPAIAAAFAKETSLLAVPGALSPLAIPNA
AAAAAAAAAGRVGMPGVSAGGNTVLLVSNLNEEMVTPQSLFTLFGVYGDVQRVKILYNKKDSALIQMADGNQSQLAMNHLNGQKMYGKIIRVTLSKHQTVQLPRE
GLDDQGLTKDFGNSPLHRFKKPGSKNFQNIFPPSATLHLSNIPPSVAEEDLRTLFANTGGTVKAFKFFQDHKMALLQMATVEEAIQALIDLHNYNLGENHHLRVS
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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 (2) 0 (0) 0 (1) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top