Evidence Details for SNRNP200
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 Links | Entrez 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
Show »
ATGGCGGATGTAACCGCCCGTAGTCTGCAATACGAGTACAAGGCGAACTCGAATCTTGTGCTCCAAGCTGACCGTTCTCTCATTGACCGGACCCGCCGGGATGAA
CCCACAGGAGAGGTGCTGTCCCTTGTTGGGAAGCTGGAGGGCACCCGTATGGGAGACAAGGCTCAACGGACCAAACCGCAGATGCAGGAGGAAAGAAGAGCCAAG
CGAAGAAAGCGTGATGAGGACCGGCATGACATCAACAAGATGAAGGGTTATACTCTGCTGTCGGAGGGCATTGATGAGATGGTGGGCATCATCTACAAGCCCAAA
ACTAAAGAGACTCGGGAGACCTATGAGGTGCTACTCAGCTTCATCCAGGCTGCTCTTGGGGACCAGCCACGTGATATCCTTTGTGGGGCAGCTGATGAAGTTCTA
GCTGTTCTAAAGAATGAAAAGCTGCGGGACAAGGAAAGGCGAAAGGAGATTGACCTGCTGCTGGGTCAAACAGATGATACCAGATACCATGTGCTAGTGAACCTG
GGCAAAAAGATCACAGACTATGGTGGAGATAAGGAAATCCAAAATATGGATGACAACATTGATGAGACATACGGTGTGAATGTGCAGTTTGAGTCTGATGAGGAG
GAAGGTGATGAAGACGTATACGGGGAGGTTCGAGAAGAGGCATCTGATGATGACATGGAAGGGGACGAGGCTGTCGTGCGCTGCACCCTCTCGGCTAATCTCGTA
GCCTCAGGTGAACTGATGAGTTCCAAGAAGAAGGATTTGCACCCTCGGGATATTGATGCATTTTGGCTGCAGCGGCAGCTCAGTCGTTTCTATGATGATGCCATC
GTGTCGCAGAAGAAGGCAGATGAAGTATTGGAGATTTTGAAGACGGCCAGTGATGATCGGGAATGTGAAAATCAGCTGGTTCTGCTGCTTGGTTTCAACACCTTT
GATTTCATTAAAGTGTTGCGGCAGCACAGGATGATGATTTTATACTGTACCTTGCTGGCCAGTGCACAAAGTGAAGCTGAAAAGGAAAGGATTATGGGAAAGATG
GAAGCTGACCCAGAGCTATCCAAGTTCCTCTACCAGCTTCATGAAACCGAGAAGGAGGATCTGATCCGAGAGGAAAGGTCCCGGAGAGAGCGAGTGCGTCAGTCT
Show »
>SNRNP200|23020|protein
MADVTARSLQYEYKANSNLVLQADRSLIDRTRRDEPTGEVLSLVGKLEGTRMGDKAQRTKPQMQEERRAKRRKRDEDRHDINKMKGYTLLSEGIDEMVGIIYKPK
TKETRETYEVLLSFIQAALGDQPRDILCGAADEVLAVLKNEKLRDKERRKEIDLLLGQTDDTRYHVLVNLGKKITDYGGDKEIQNMDDNIDETYGVNVQFESDEE
EGDEDVYGEVREEASDDDMEGDEAVVRCTLSANLVASGELMSSKKKDLHPRDIDAFWLQRQLSRFYDDAIVSQKKADEVLEILKTASDDRECENQLVLLLGFNTF
DFIKVLRQHRMMILYCTLLASAQSEAEKERIMGKMEADPELSKFLYQLHETEKEDLIREERSRRERVRQSRMDTDLETMDLDQGGEALAPRQVLDLEDLVFTQGS
HFMANKRCQLPDGSFRRQRKGYEEVHVPALKPKPFGSEEQLLPVEKLPKYAQAGFEGFKTLNRIQSKLYRAALETDENLLLCAPTGAGKTNVALMCMLREIGKHI
Show »
MADVTARSLQYEYKANSNLVLQADRSLIDRTRRDEPTGEVLSLVGKLEGTRMGDKAQRTKPQMQEERRAKRRKRDEDRHDINKMKGYTLLSEGIDEMVGIIYKPK
TKETRETYEVLLSFIQAALGDQPRDILCGAADEVLAVLKNEKLRDKERRKEIDLLLGQTDDTRYHVLVNLGKKITDYGGDKEIQNMDDNIDETYGVNVQFESDEE
EGDEDVYGEVREEASDDDMEGDEAVVRCTLSANLVASGELMSSKKKDLHPRDIDAFWLQRQLSRFYDDAIVSQKKADEVLEILKTASDDRECENQLVLLLGFNTF
DFIKVLRQHRMMILYCTLLASAQSEAEKERIMGKMEADPELSKFLYQLHETEKEDLIREERSRRERVRQSRMDTDLETMDLDQGGEALAPRQVLDLEDLVFTQGS
HFMANKRCQLPDGSFRRQRKGYEEVHVPALKPKPFGSEEQLLPVEKLPKYAQAGFEGFKTLNRIQSKLYRAALETDENLLLCAPTGAGKTNVALMCMLREIGKHI
Show »
Evidence summary TopClick 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) | 0 (0) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) |  | | - | autism | 16 (6.25%) |
0.987907 | Down | 64.1793 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
| Takata A, 2018 | 262 | 262 | 322 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.