AutismKB 2.0

Evidence Details for PACS2


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Basic Information Top
Gene Symbol:PACS2 ( FLJ25488,KIAA0602,PACS1L )
Gene Full Name: phosphofurin acidic cluster sorting protein 2
Band: 14q32.33
Quick LinksEntrez ID:23241; OMIM: 610423; Uniprot ID:PACS2_HUMAN; ENSEMBL ID: ENSG00000179364; HGNC ID: 23794
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PACS2|23241|nucleotide
ATGGCCGAGCGAGGCCGCCTCGGCCTCCCCGGCGCGCCCGGCGCGCTCAACACGCCCGTGCCCATGAACCTGTTCGCCACCTGGGAGGTGGACGGCTCCAGCCCC
AGCTGCGTGCCCAGGTTGTGCAGCCTGACTCTGAAGAAGCTGGTGGTCTTCAAGGAGCTGGAGAAGGAGCTGATCTCCGTGGTGATCGCTGTCAAGATGCAGGGC
TCCAAACGAATCCTGCGGTCCCATGAGATTGTGCTGCCCCCCAGTGGACAAGTGGAGACAGACCTGGCCCTGACCTTCTCCTTGCAGTATCCTCACTTCTTGAAG
AGGGAAGGCAACAAGCTTCAGATCATGCTGCAGCGCAGAAAGCGCTACAAGAACAGAACCATCCTGGGCTACAAGACGCTGGCCGCGGGCTCCATCAGCATGGCT
GAGGTGATGCAACACCCGTCTGAAGGTGGCCAGGTGCTGAGCCTCTGCAGCAGCATCAAGGAGGCCCCCGTCAAGGCGGCCGAGATCTGGATCGCCTCCCTGTCC
AGCCAGCCCATTGACCACGAAGACAGCACCATGCAGGCCGGCCCCAAGGCCAAGTCCACGGATAACTACTCCGAGGAGGAGTATGAGAGCTTCTCCTCCGAGCAG
GAGGCCAGTGACGACGCCGTGCAGGGGCAGGACTTGGACGAGGACGACTTTGACGTGGGGAAGCCGAAGAAGCAGCGGAGATCGATTGTAAGAACGACGTCCATG
ACCAGGCAACAGAACTTCAAGCAGAAAGTGGTAGCGCTGCTGCGGAGGTTCAAAGTGTCCGACGAGGTCCTGGACTCGGAGCAGGACCCTGCGGAGCACATCCCC
GAGGCAGAGGAGGACCTGGACCTCCTGTATGACACCCTGGACATGGAGCACCCCAGCGACAGCGGCCCCGACATGGAGGATGACGACAGCGTCCTCAGCACCCCC
AAGCCGAAGCTGCGGCCATACTTTGAAGGCCTGTCGCACTCGAGCTCGCAGACGGAGATTGGGAGCATCCACAGCGCCCGCAGCCACAAGGAGCCCCCAAGCCCG
GCTGACGTGCCCGAGAAGACGCGGTCCCTGGGAGGCAGGCAGCCGAGCGACAGTGTCTCTGACACGGTGGCCCTCGGTGTGCCAGGCCCGAGGGAGCACCCTGGA
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>PACS2|23241|protein
MAERGRLGLPGAPGALNTPVPMNLFATWEVDGSSPSCVPRLCSLTLKKLVVFKELEKELISVVIAVKMQGSKRILRSHEIVLPPSGQVETDLALTFSLQYPHFLK
REGNKLQIMLQRRKRYKNRTILGYKTLAAGSISMAEVMQHPSEGGQVLSLCSSIKEAPVKAAEIWIASLSSQPIDHEDSTMQAGPKAKSTDNYSEEEYESFSSEQ
EASDDAVQGQDLDEDDFDVGKPKKQRRSIVRTTSMTRQQNFKQKVVALLRRFKVSDEVLDSEQDPAEHIPEAEEDLDLLYDTLDMEHPSDSGPDMEDDDSVLSTP
KPKLRPYFEGLSHSSSQTEIGSIHSARSHKEPPSPADVPEKTRSLGGRQPSDSVSDTVALGVPGPREHPGQPEDSPEAEASTLDVFTERLPPSGRITKTESLVIP
STRSEGKQAGRRGRSTSLKERQAARPQNERANSLDNERCPDARSQLQVQLQIPRKTVYDQLNHILISDDQLPENIILVNTSDWQGQFLSDVLQRHTLPVVCTCSP
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (1) 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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top