AutismKB 2.0

Evidence Details for SNRNP200


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Basic Information Top
Gene Symbol:SNRNP200 ( ASCC3L1,BRR2,FLJ11521,HELIC2,RP33,U5-200KD )
Gene Full Name: small nuclear ribonucleoprotein 200kDa (U5)
Band: 2q11.2
Quick LinksEntrez ID:23020; OMIM: 601664; Uniprot ID:U520_HUMAN; ENSEMBL ID: ENSG00000144028; HGNC ID: 30859
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SNRNP200|23020|nucleotide
ATGGCGGATGTAACCGCCCGTAGTCTGCAATACGAGTACAAGGCGAACTCGAATCTTGTGCTCCAAGCTGACCGTTCTCTCATTGACCGGACCCGCCGGGATGAA
CCCACAGGAGAGGTGCTGTCCCTTGTTGGGAAGCTGGAGGGCACCCGTATGGGAGACAAGGCTCAACGGACCAAACCGCAGATGCAGGAGGAAAGAAGAGCCAAG
CGAAGAAAGCGTGATGAGGACCGGCATGACATCAACAAGATGAAGGGTTATACTCTGCTGTCGGAGGGCATTGATGAGATGGTGGGCATCATCTACAAGCCCAAA
ACTAAAGAGACTCGGGAGACCTATGAGGTGCTACTCAGCTTCATCCAGGCTGCTCTTGGGGACCAGCCACGTGATATCCTTTGTGGGGCAGCTGATGAAGTTCTA
GCTGTTCTAAAGAATGAAAAGCTGCGGGACAAGGAAAGGCGAAAGGAGATTGACCTGCTGCTGGGTCAAACAGATGATACCAGATACCATGTGCTAGTGAACCTG
GGCAAAAAGATCACAGACTATGGTGGAGATAAGGAAATCCAAAATATGGATGACAACATTGATGAGACATACGGTGTGAATGTGCAGTTTGAGTCTGATGAGGAG
GAAGGTGATGAAGACGTATACGGGGAGGTTCGAGAAGAGGCATCTGATGATGACATGGAAGGGGACGAGGCTGTCGTGCGCTGCACCCTCTCGGCTAATCTCGTA
GCCTCAGGTGAACTGATGAGTTCCAAGAAGAAGGATTTGCACCCTCGGGATATTGATGCATTTTGGCTGCAGCGGCAGCTCAGTCGTTTCTATGATGATGCCATC
GTGTCGCAGAAGAAGGCAGATGAAGTATTGGAGATTTTGAAGACGGCCAGTGATGATCGGGAATGTGAAAATCAGCTGGTTCTGCTGCTTGGTTTCAACACCTTT
GATTTCATTAAAGTGTTGCGGCAGCACAGGATGATGATTTTATACTGTACCTTGCTGGCCAGTGCACAAAGTGAAGCTGAAAAGGAAAGGATTATGGGAAAGATG
GAAGCTGACCCAGAGCTATCCAAGTTCCTCTACCAGCTTCATGAAACCGAGAAGGAGGATCTGATCCGAGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCT
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>SNRNP200|23020|protein
MADVTARSLQYEYKANSNLVLQADRSLIDRTRRDEPTGEVLSLVGKLEGTRMGDKAQRTKPQMQEERRAKRRKRDEDRHDINKMKGYTLLSEGIDEMVGIIYKPK
TKETRETYEVLLSFIQAALGDQPRDILCGAADEVLAVLKNEKLRDKERRKEIDLLLGQTDDTRYHVLVNLGKKITDYGGDKEIQNMDDNIDETYGVNVQFESDEE
EGDEDVYGEVREEASDDDMEGDEAVVRCTLSANLVASGELMSSKKKDLHPRDIDAFWLQRQLSRFYDDAIVSQKKADEVLEILKTASDDRECENQLVLLLGFNTF
DFIKVLRQHRMMILYCTLLASAQSEAEKERIMGKMEADPELSKFLYQLHETEKEDLIREERSRRERVRQSRMDTDLETMDLDQGGEALAPRQVLDLEDLVFTQGS
HFMANKRCQLPDGSFRRQRKGYEEVHVPALKPKPFGSEEQLLPVEKLPKYAQAGFEGFKTLNRIQSKLYRAALETDENLLLCAPTGAGKTNVALMCMLREIGKHI
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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 (1) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top