AutismKB 2.0

Evidence Details for PLSCR1


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Basic Information Top
Gene Symbol:PLSCR1 ( MMTRA1B )
Gene Full Name: phospholipid scramblase 1
Band: 3q24
Quick LinksEntrez ID:5359; OMIM: 604170; Uniprot ID:PLS1_HUMAN; ENSEMBL ID: ENSG00000188313; HGNC ID: 9092
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLSCR1|5359|nucleotide
ATGGACAAACAAAACTCACAGATGAATGCTTCTCACCCGGAAACAAACTTGCCAGTTGGGTATCCTCCTCAGTATCCACCGACAGCATTCCAAGGACCTCCAGGA
TATAGTGGCTACCCTGGGCCCCAGGTCAGCTACCCACCCCCACCAGCCGGCCATTCAGGTCCTGGCCCAGCTGGCTTTCCTGTCCCAAATCAGCCAGTGTATAAT
CAGCCAGTATATAATCAGCCAGTTGGAGCTGCAGGGGTACCATGGATGCCAGCGCCACAGCCTCCATTAAACTGTCCACCTGGATTAGAATATTTAAGTCAGATA
GATCAGATACTGATTCATCAGCAAATTGAACTTCTGGAAGTTTTAACAGGTTTTGAAACTAATAACAAATATGAAATTAAGAACAGCTTTGGACAGAGGGTTTAC
TTTGCAGCGGAAGATACTGATTGCTGTACCCGAAATTGCTGTGGGCCATCTAGACCTTTTACCTTGAGGATTATTGATAATATGGGTCAAGAAGTCATAACTCTG
GAGAGACCACTAAGATGTAGCAGCTGTTGTTGTCCCTGCTGCCTTCAGGAGATAGAAATCCAAGCTCCTCCTGGTGTACCAATAGGTTATGTTATTCAGACTTGG
CACCCATGTCTACCAAAGTTTACAATTCAAAATGAGAAAAGAGAGGATGTACTAAAAATAAGTGGTCCATGTGTTGTGTGCAGCTGTTGTGGAGATGTTGATTTT
GAGATTAAATCTCTTGATGAACAGTGTGTGGTTGGCAAAATTTCCAAGCACTGGACTGGAATTTTGAGAGAGGCATTTACAGACGCTGATAACTTTGGAATCCAG
TTCCCTTTAGACCTTGATGTTAAAATGAAAGCTGTAATGATTGGTGCCTGTTTCCTCATTGACTTCATGTTTTTTGAAAGCACTGGCAGCCAGGAACAAAAATCA
GGAGTGTGGTAG

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>PLSCR1|5359|protein
MDKQNSQMNASHPETNLPVGYPPQYPPTAFQGPPGYSGYPGPQVSYPPPPAGHSGPGPAGFPVPNQPVYNQPVYNQPVGAAGVPWMPAPQPPLNCPPGLEYLSQI
DQILIHQQIELLEVLTGFETNNKYEIKNSFGQRVYFAAEDTDCCTRNCCGPSRPFTLRIIDNMGQEVITLERPLRCSSCCCPCCLQEIEIQAPPGVPIGYVIQTW
HPCLPKFTIQNEKREDVLKISGPCVVCSCCGDVDFEIKSLDEQCVVGKISKHWTGILREAFTDADNFGIQFPLDLDVKMKAVMIGACFLIDFMFFESTGSQEQKS
GVW

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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 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top