AutismKB 2.0

Evidence Details for PGAP1


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Basic Information Top
Gene Symbol:PGAP1 ( Bst1,FLJ42774,ISPD3024 )
Gene Full Name: post-GPI attachment to proteins 1
Band: 2q33.1
Quick LinksEntrez ID:80055; OMIM: 611655; Uniprot ID:PGAP1_HUMAN; ENSEMBL ID: ENSG00000197121; HGNC ID: 25712
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PGAP1|80055|nucleotide
ATGTTTCTTCACTCAGTTAATCTCTGGAACCTGGCGTTTTATGTCTTCATGGTCTTTCTGGCAACCCTGGGGCTGTGGGATGTCTTCTTCGGCTTCGAGGAGAAT
AAGTGCAGTATGAGCTACATGTTTGAGTACCCGGAGTATCAGAAAATAGAACTTCCAAAGAAACTGGCAAAACGCTATCCCGCATATGAGTTGTATCTTTATGGA
GAGGGATCCTATGCTGAAGAACACAAAATTCTCCCTTTGACGGGTATTCCAGTTCTCTTTCTTCCTGGTAATGCTGGAAGTTATAAGCAAGTTCGTTCTATTGGC
TCCATTGCACTTAGAAAAGCAGAGGACATTGACTTCAAGTACCACTTTGACTTCTTTAGTGTGAACTTCAATGAAGAACTGGTGGCTTTGTATGGTGGAAGTCTT
CAGAAGCAGACCAAGTTTGTACATGAATGTATTAAAACAATTCTCAAACTCTATAAGGGTCAAGAATTTGCTCCAAAAAGTGTGGCAATAATTGGTCATTCTATG
GGTGGCCTTGTTGCAAGAGCATTGCTTACACTGAAAAATTTTAAGCATGATCTGATAAATCTTCTTATTACACAAGCCACACCTCATGTTGCTCCTGTGATGCCA
TTAGATCGTTTCATTACAGATTTTTATACGACTGTAAACAACTATTGGATTCTAAATGCTCGACACATAAATTTAACCACACTTTCTGTAGCTGGAGGATTCCGG
GATTACCAAGTTCGTTCAGGATTGACTTTTCTACCAAAATTAAGCCATCATACCAGTGCCTTATCTGTTGTGAGTTCAGCAGTGCCTAAGACCTGGGTCTCAACA
GACCACCTCTCCATTGTGTGGTGTAAACAATTGCAGTTGACTACAGTTCGAGCATTCTTTGATCTTATTGATGCTGATACTAAACAAATAACTCAAAATTCCAAG
AAGAAACTGTCAGTTTTGTATCACCACTTTATAAGACACCCATCAAAACATTTTGAGGAAAATCCAGCTATAATTTCTGACTTAACAGGGACATCTATGTGGGTT
CTAGTAAAAGTGTCCAAATGGACCTATGTAGCTTACAACGAATCTGAGAAGATATATTTTACATTTCCTCTTGAAAATCATAGAAAAATCTACACTCATGTCTAT
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>PGAP1|80055|protein
MFLHSVNLWNLAFYVFMVFLATLGLWDVFFGFEENKCSMSYMFEYPEYQKIELPKKLAKRYPAYELYLYGEGSYAEEHKILPLTGIPVLFLPGNAGSYKQVRSIG
SIALRKAEDIDFKYHFDFFSVNFNEELVALYGGSLQKQTKFVHECIKTILKLYKGQEFAPKSVAIIGHSMGGLVARALLTLKNFKHDLINLLITQATPHVAPVMP
LDRFITDFYTTVNNYWILNARHINLTTLSVAGGFRDYQVRSGLTFLPKLSHHTSALSVVSSAVPKTWVSTDHLSIVWCKQLQLTTVRAFFDLIDADTKQITQNSK
KKLSVLYHHFIRHPSKHFEENPAIISDLTGTSMWVLVKVSKWTYVAYNESEKIYFTFPLENHRKIYTHVYCQSTMLDTNSWIFACINSTSMCLQGVDLSWKAELL
PTIKYLTLRLQDYPSLSHLVVYVPSVRGSKFVVDCEFFKKEKRYIQLPVTHLFSFGLSSRKVVLNTNGLYYNLELLNFGQIYQAFKINVVSKCSAVKEEITSIYR
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top