AutismKB 2.0

Evidence Details for PAN2


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Basic Information Top
Gene Symbol:PAN2 ( FLJ39360,KIAA0710,USP52 )
Gene Full Name: PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)
Band: 12q13.3
Quick LinksEntrez ID:9924; OMIM: NA; Uniprot ID:PAN2_HUMAN; ENSEMBL ID: ENSG00000135473; HGNC ID: 20074
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PAN2|9924|nucleotide
ATGAACTTTGAGGGTCTGGACCCTGGACTGGCAGAATATGCCCCAGCCATGCATTCTGCCCTGGACCCTGTCTTGGATGCCCACCTGAACCCAAGTCTGCTACAG
AATGTGGAGCTGGACCCAGAGGGAGTGGCCTTGGAGGCTCTTCCCGTCCAGGAATCAGTGCACATAATGGAAGGTGTCTACTCTGAATTGCACAGCGTGGTGGCT
GAAGTGGGTGTACCTGTTTCCGTCTCCCACTTTGACTTGCACGAGGAGATGCTGTGGGTGGGGAGCCACGGGGGCCATGCCACTTCATTTTTTGGCCCAGCCTTG
GAGCGCTACTCATCCTTTCAAGTCAATGGCAGTGATGATATTCGGCAGATCCAGAGCCTGGAGAATGGTATCCTTTTTCTCACCAAGAACAACCTCAAGTATATG
GCCCGTGGGGGCCTCATTATATTTGATTACCTGCTGGATGAGAATGAGGATATGCACAGTCTCCTACTGACTGACAGCAGCACTCTACTCGTTGGTGGGCTGCAG
AATCACATACTAGAGATTGATCTTAACACTGTCCAGGAGACTCAGAAGTATGCAGTAGAGACGCCTGGAGTCACCATCATGAGACAGACAAATCGCTTCTTCTTC
TGCGGCCACACGTCTGGCAAGGTTTCCCTGAGAGACCTCCGTACTTTTAAGGTGGAACATGAGTTTGATGCCTTCTCAGGAAGTCTGTCAGACTTTGATGTGCAT
GGCAACCTGCTAGCTGCCTGTGGCTTCTCCAGCCGCCTCACTGGCCTGGCCTGCGACCGTTTCCTCAAGGTGTATGATTTGCGCATGATGCGTGCCATCACACCA
CTTCAAGTACATGTGGATCCTGCCTTCTTGCGCTTCATTCCTACATATACTTCTCGTCTTGCTATCATCTCTCAGTCAGGGCAGTGCCAATTCTGTGAACCCACA
GGCCTGGCCAACCCAGCCGATATCTTTCATGTGAATCCTGTGGGGCCTCTGCTAATGACATTTGATGTGTCAGCCAGCAAGCAGGCTCTGGCCTTTGGGGATTCT
GAGGGCTGTGTGCACCTCTGGACTGATTCCCCGGAGCCTTCCTTCAACCCCTACTCCCGTGAGACTGAGTTTGCTTTGCCGTGTCTCGTGGACTCACTGCCTCCT
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>PAN2|9924|protein
MNFEGLDPGLAEYAPAMHSALDPVLDAHLNPSLLQNVELDPEGVALEALPVQESVHIMEGVYSELHSVVAEVGVPVSVSHFDLHEEMLWVGSHGGHATSFFGPAL
ERYSSFQVNGSDDIRQIQSLENGILFLTKNNLKYMARGGLIIFDYLLDENEDMHSLLLTDSSTLLVGGLQNHILEIDLNTVQETQKYAVETPGVTIMRQTNRFFF
CGHTSGKVSLRDLRTFKVEHEFDAFSGSLSDFDVHGNLLAACGFSSRLTGLACDRFLKVYDLRMMRAITPLQVHVDPAFLRFIPTYTSRLAIISQSGQCQFCEPT
GLANPADIFHVNPVGPLLMTFDVSASKQALAFGDSEGCVHLWTDSPEPSFNPYSRETEFALPCLVDSLPPLDWSQDLLPLSLIPVPLTTDTLLSDWPAANSAPAP
RRAPPVDAEILRTMKKVGFIGYAPNPRTRLRNQIPYRLKESDSEFDSFSQVTESPVGREEEPHLHMVSKKYRKVTIKYSKLGLEDFDFKHYNKTLFAGLEPHIPN
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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 (3) 0 (0) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 10 (5)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top