Evidence Details for CHMP2B
Basic Information Top
| Gene Symbol: | CHMP2B ( CHMP2.5,DKFZp564O123,DMT1,VPS2-2,VPS2B ) |
|---|---|
| Gene Full Name: | chromatin modifying protein 2B |
| Band: | 3p11.2 |
| Quick Links | Entrez ID:25978; OMIM: 609512; Uniprot ID:CHM2B_HUMAN; ENSEMBL ID: ENSG00000083937; HGNC ID: 24537 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CHMP2B|25978|nucleotide
ATGGCGTCCCTCTTCAAGAAGAAAACCGTGGATGATGTAATAAAGGAACAGAATCGAGAGTTACGAGGTACACAGAGGGCTATAATCAGAGATCGAGCAGCTTTA
GAGAAACAAGAAAAACAGCTGGAATTAGAAATTAAGAAAATGGCCAAGATTGGTAATAAGGAAGCTTGCAAAGTTTTAGCCAAACAACTTGTGCATCTACGGAAA
CAGAAGACGAGAACTTTTGCTGTAAGTTCAAAAGTTACTTCTATGTCTACACAAACAAAAGTGATGAATTCCCAAATGAAGATGGCTGGAGCAATGTCTACTACA
GCAAAAACAATGCAGGCAGTTAACAAGAAGATGGATCCACAAAAGACATTACAAACAATGCAGAATTTCCAGAAGGAAAACATGAAAATGGAAATGACTGAAGAA
ATGATCAATGATACACTTGATGACATCTTTGACGGTTCTGATGACGAAGAAGAAAGCCAGGATATTGTGAATCAAGTTCTTGATGAAATTGGAATTGAAATTTCT
GGAAAGATGGCCAAAGCTCCATCAGCTGCTCGAAGCTTACCATCTGCCTCTACTTCAAAGGCTACAATCTCAGATGAAGAGATTGAACGGCAACTCAAGGCTTTA
GGAGTAGATTAG
Show »
ATGGCGTCCCTCTTCAAGAAGAAAACCGTGGATGATGTAATAAAGGAACAGAATCGAGAGTTACGAGGTACACAGAGGGCTATAATCAGAGATCGAGCAGCTTTA
GAGAAACAAGAAAAACAGCTGGAATTAGAAATTAAGAAAATGGCCAAGATTGGTAATAAGGAAGCTTGCAAAGTTTTAGCCAAACAACTTGTGCATCTACGGAAA
CAGAAGACGAGAACTTTTGCTGTAAGTTCAAAAGTTACTTCTATGTCTACACAAACAAAAGTGATGAATTCCCAAATGAAGATGGCTGGAGCAATGTCTACTACA
GCAAAAACAATGCAGGCAGTTAACAAGAAGATGGATCCACAAAAGACATTACAAACAATGCAGAATTTCCAGAAGGAAAACATGAAAATGGAAATGACTGAAGAA
ATGATCAATGATACACTTGATGACATCTTTGACGGTTCTGATGACGAAGAAGAAAGCCAGGATATTGTGAATCAAGTTCTTGATGAAATTGGAATTGAAATTTCT
GGAAAGATGGCCAAAGCTCCATCAGCTGCTCGAAGCTTACCATCTGCCTCTACTTCAAAGGCTACAATCTCAGATGAAGAGATTGAACGGCAACTCAAGGCTTTA
GGAGTAGATTAG
Show »
>CHMP2B|25978|protein
MASLFKKKTVDDVIKEQNRELRGTQRAIIRDRAALEKQEKQLELEIKKMAKIGNKEACKVLAKQLVHLRKQKTRTFAVSSKVTSMSTQTKVMNSQMKMAGAMSTT
AKTMQAVNKKMDPQKTLQTMQNFQKENMKMEMTEEMINDTLDDIFDGSDDEEESQDIVNQVLDEIGIEISGKMAKAPSAARSLPSASTSKATISDEEIERQLKAL
GVD
Show »
MASLFKKKTVDDVIKEQNRELRGTQRAIIRDRAALEKQEKQLELEIKKMAKIGNKEACKVLAKQLVHLRKQKTRTFAVSSKVTSMSTQTKVMNSQMKMAGAMSTT
AKTMQAVNKKMDPQKTLQTMQNFQKENMKMEMTEEMINDTLDDIFDGSDDEEESQDIVNQVLDEIGIEISGKMAKAPSAARSLPSASTSKATISDEEIERQLKAL
GVD
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 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| MIXED/OTHERS | ||||||||||
| Owens, 2011_2 | USA | TaqMan SNP assay | 130 | 204 (18.63%) |  | | ASD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies TopNGS de novo Mutation Studies TopNGS 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.