AutismKB 2.0

Evidence Details for PLEKHM3


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Basic Information Top
Gene Symbol:PLEKHM3 ( DAPR,DKFZp686O04200,FLJ41210,PLEKHM1L )
Gene Full Name: pleckstrin homology domain containing, family M, member 3
Band: 2q33.3
Quick LinksEntrez ID:389072; OMIM: NA; Uniprot ID:PKHM3_HUMAN; ENSEMBL ID: ENSG00000178385; HGNC ID: 34006
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLEKHM3|389072|nucleotide
ATGGAAGCTTTGGAAGTGGATGATATCAGCCCAGCCTTAGAAGTTACGGAGGAATTCTTTAGTACTTTGGATAGTAATCTAGAAAAGGCTGTGCAGCAGGCAGAG
GTTTATGGGATCCAGGAAGTCCCTGAACTGGTGGGGCATGAGGTACTCAGTAACATAACAGACAATGGTGCTATGAGAAATGTCACCTCCCTGGGCAAGGGGGGC
ATGATTTGGGACCACTGTAAGAGCAGGCTCTTAGAAACCAAAGCTCAAAATGTCTTCCCTGCCAAAGAACAGTTTATGGTCCAGAGAGGGACAACCCCAGATAAT
CTTTCCTGGATGGAACAAAAGGAAGCATCAACCTTTAATTTCTTCAATATCTGTCAGCGTCGGAGGGACCGGCCTCGTTCTGTAAATGACTTACTGGATGAGACC
TCAACTTTCAAGCCAGGGCATGCTCGATCACGATCAGATATTACCCAAGTGGACTGGAGGGTAGTCCTCAAAACCACGCCTTTGCAGCAGCAGCAACAGCAGCAG
CCATTGCTTCAAGGCCCGCATGTCACCAGGCCATCTTTTCTGTTGCCCTCACCAAATAAGATAGAAGATGCTCAAGGAAATACTGAACACAAGCAGACATTCCCA
AACATTCTAAAGAAGGGTTACCTGGAGATTAGAAAGGACCATGACAGTTACTGGCAAAGCTGTTATGCAGAACTTTCACCTTACAACTTATACTTCTACAGCCTC
GACAGCAGTGGGAATCAAAACCTTTATGCCACGTACCAGCTTTCACACTTCCAGAGCATATCTGTTTTAGGCAACCTGGAGGCCAGGATGGTGGATACTGTTTTG
TATGACAACACTCAGCTACAGCTAAAGGCAGAGTCACCATGGGAGGCTTTGGACTGGGGACAGAAGCTTTGGGAAGTAGTGCATGCTGCTGTGCCCGGTTACATG
GGGCGGCAGAATGAGCTGACAATCTCACCAGGGCTTGGCCATCATGATGACTATACACAGAATCATAGTTTCCAGAAGAAAACCAGTGGGCTGCTGCCACCGTCC
CCTGTCCTGGACAGCTCCAAACAGTACCAAAACATCCTCAAATCAGGGACTCTCTACAGGCTGACTGTCCAAAACAACTGGAAGGCATTTACATTTGTGCTGAGC
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>PLEKHM3|389072|protein
MEALEVDDISPALEVTEEFFSTLDSNLEKAVQQAEVYGIQEVPELVGHEVLSNITDNGAMRNVTSLGKGGMIWDHCKSRLLETKAQNVFPAKEQFMVQRGTTPDN
LSWMEQKEASTFNFFNICQRRRDRPRSVNDLLDETSTFKPGHARSRSDITQVDWRVVLKTTPLQQQQQQQPLLQGPHVTRPSFLLPSPNKIEDAQGNTEHKQTFP
NILKKGYLEIRKDHDSYWQSCYAELSPYNLYFYSLDSSGNQNLYATYQLSHFQSISVLGNLEARMVDTVLYDNTQLQLKAESPWEALDWGQKLWEVVHAAVPGYM
GRQNELTISPGLGHHDDYTQNHSFQKKTSGLLPPSPVLDSSKQYQNILKSGTLYRLTVQNNWKAFTFVLSRAYLMAFQPGKLDEDPLLSYNVDVCLAVQMDNLDG
CDSCFQVIFPQDVLRLRAETRQRAQEWMEALKIAANVARSSEQNLQVTLRNKPKDQMGGHELRKNKRQSVTTSFLSILTTLSLERGLTAQSFKCAGCQRSIGLSN
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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 (0) 0 (0) 0 (1) 0 (0) 0 (2)
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
Pescucci, 2003 - STS mappingautism - - - - 1 - 1
Linkage Studies Top