AutismKB 2.0

Evidence Details for JSRP1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:JSRP1 ( FLJ32416,JP-45 )
Gene Full Name: junctional sarcoplasmic reticulum protein 1
Band: 19p13.3
Quick LinksEntrez ID:126306; OMIM: 608743; Uniprot ID:JSPR1_HUMAN; ENSEMBL ID: ENSG00000167476; HGNC ID: 24963
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>JSRP1|126306|nucleotide
ATGTCCATGACAACCAGAGCCTGGGAGGAGCTGGATGGCGGCCTGGGCAGCTGCCAGGCCCTGGAGGACCACTCTGCGCTGGCCGAGACCCAGGAGGACAGGGCT
TCAGCGACACCCAGGCTGGCCGACTCCGGCAGCGTGCCCCACGACTCTCAGGTGGCTGAAGGCCCCAGTGTGGACACCAGGCCCAAGAAGATGGAAAAAGAGCCT
GCCGCCAGGGGGACCCCAGGAACGGGGAAGGAGAGGCTGAAAGCCGGAGCGAGCCCTCGGAGCGTCCCCGCGCGCAAGAAGGCGCAGACCGCGCCGCCCCTGCAG
CCGCCGCCGCCGCCCCCGGCCCTGAGCGAGGAGCTGCCCTGGGGAGACCTGTCGCTCAACAAGTGCCTGGTGCTCGCCTCGCTGGTGGCGCTGCTGGGCTCGGCT
TTCCAGCTGTGCCGCGACGCCGTCCCTGGGGAGGCAGCACTCCAAGCACGTGTGCCCGAGCCCTGGGTCCCGCCAAGCTCAGCCCCGAGGGAGCCATCGTCGCCC
CTGCCTAAGTTCGAGGCCCAGGCGCCTCCATCAGCGCCGCCTGCGCCCCGGGCCGAGGCAGAGGTCAGACCCAAGATTCCCGGGAGTCGGGAGGCTGCAGAGAAC
GACGAAGAGGAGCCCGGCGAGGCCACCGGAGAGGCCGTCCGGGAGGACCGTGTGACCCTCGCAGACCGGGGACCCAAGGAGAGGCCTCGGAGAGAGGGGAAGCCG
CGGAAGGAGAAGCCGCGGAAGGAGGAGAGACCTAAGAAAGAGAGGCCGCGGAAAGAGGAGAGGCCACGGGCCGCCAGGGAGCCCCGGGAAGCCCTACCCCAGCGC
TGGGAGTCACGCGAAGGGGGCCACCGGCCGTGGGCACGGGACTCCAGGGACGCCGAGCCCAGGAAGAAGCAGGCCTGGGTGTCCCCGAGGCGTCCCGACGAGGAG
CAGCGGCCTGGGAGTCGCCAGAAGCTCCGCGCAGGCAAGGGGCGGGACTGA

Show »

>JSRP1|126306|protein
MSMTTRAWEELDGGLGSCQALEDHSALAETQEDRASATPRLADSGSVPHDSQVAEGPSVDTRPKKMEKEPAARGTPGTGKERLKAGASPRSVPARKKAQTAPPLQ
PPPPPPALSEELPWGDLSLNKCLVLASLVALLGSAFQLCRDAVPGEAALQARVPEPWVPPSSAPREPSSPLPKFEAQAPPSAPPAPRAEAEVRPKIPGSREAAEN
DEEEPGEATGEAVREDRVTLADRGPKERPRREGKPRKEKPRKEERPKKERPRKEERPRAAREPREALPQRWESREGGHRPWARDSRDAEPRKKQAWVSPRRPDEE
QRPGSRQKLRAGKGRD

Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top