AutismKB 2.0

Evidence Details for PIM3


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Basic Information Top
Gene Symbol:PIM3 ( pim-3 )
Gene Full Name: pim-3 oncogene
Band: 22q13.33
Quick LinksEntrez ID:415116; OMIM: 610580; Uniprot ID:PIM3_HUMAN; ENSEMBL ID: ENSG00000198355; HGNC ID: 19310
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PIM3|415116|nucleotide
ATGCTGCTCTCCAAGTTCGGCTCCCTGGCGCACCTCTGCGGGCCCGGCGGCGTGGACCACCTCCCGGTGAAGATCCTGCAGCCAGCCAAGGCGGACAAGGAGAGC
TTCGAGAAGGCGTACCAGGTGGGCGCCGTGCTGGGTAGCGGCGGCTTCGGCACGGTCTACGCGGGTAGCCGCATCGCCGACGGGCTCCCGGTGGCTGTGAAGCAC
GTGGTGAAGGAGCGGGTGACCGAGTGGGGCAGCCTGGGCGGCGCGACCGTGCCCCTGGAGGTGGTGCTGCTGCGCAAGGTGGGCGCGGCGGGCGGCGCGCGCGGC
GTCATCCGCCTGCTGGACTGGTTCGAGCGGCCCGACGGCTTCCTGCTGGTGCTGGAGCGGCCCGAGCCGGCGCAGGACCTCTTCGACTTTATCACGGAGCGCGGC
GCCCTGGACGAGCCGCTGGCGCGCCGCTTCTTCGCGCAGGTGCTGGCCGCCGTGCGCCACTGCCACAGCTGCGGGGTCGTGCACCGCGACATTAAGGACGAAAAT
CTGCTTGTGGACCTGCGCTCCGGAGAGCTCAAGCTCATCGACTTCGGTTCGGGTGCGCTGCTCAAGGACACGGTCTACACCGACTTCGACGGCACCCGAGTGTAC
AGCCCCCCGGAGTGGATCCGCTACCACCGCTACCACGGGCGCTCGGCCACCGTGTGGTCGCTGGGCGTGCTTCTCTACGATATGGTGTGTGGGGACATCCCCTTC
GAGCAGGACGAGGAGATCCTCCGAGGCCGCCTGCTCTTCCGGAGGAGGGTCTCTCCAGAGTGCCAGCAGCTGATCCGGTGGTGCCTGTCCCTGCGGCCCTCAGAG
CGGCCGTCGCTGGATCAGATTGCGGCCCATCCCTGGATGCTGGGGGCTGACGGGGGCGTCCCGGAGAGCTGTGACCTGCGGCTGTGCACCCTCGACCCTGATGAC
GTGGCCAGCACCACGTCCAGCAGCGAGAGCTTGTGA

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>PIM3|415116|protein
MLLSKFGSLAHLCGPGGVDHLPVKILQPAKADKESFEKAYQVGAVLGSGGFGTVYAGSRIADGLPVAVKHVVKERVTEWGSLGGATVPLEVVLLRKVGAAGGARG
VIRLLDWFERPDGFLLVLERPEPAQDLFDFITERGALDEPLARRFFAQVLAAVRHCHSCGVVHRDIKDENLLVDLRSGELKLIDFGSGALLKDTVYTDFDGTRVY
SPPEWIRYHRYHGRSATVWSLGVLLYDMVCGDIPFEQDEEILRGRLLFRRRVSPECQQLIRWCLSLRPSERPSLDQIAAHPWMLGADGGVPESCDLRLCTLDPDD
VASTTSSSESL

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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) 2 (10) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (10)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Goizet, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top