Evidence Details for C21orf2
Basic Information Top
| Gene Symbol: | C21orf2 ( A2,YF5 ) |
|---|---|
| Gene Full Name: | chromosome 21 open reading frame 2 |
| Band: | 21q22.3 |
| Quick Links | Entrez ID:755; OMIM: 603191; Uniprot ID:CU002_HUMAN; ENSEMBL ID: ENSG00000160226; HGNC ID: 1260 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>C21orf2|755|nucleotide
ATGAAGCTGACGCGGAAGATGGTTCTGACCCGGGCCAAGGCCTCGGAGCTGCACAGCGTGCGCAAGCTCAACTGCTGGGGCAGCCGCCTCACAGATATCTCCATT
TGCCAGGAGATGCCCAGCCTGGAGGTGATCACGCTCAGTGTCAACAGCATCTCCACCCTGGAGCCTGTGAGCCGGTGCCAGCGCCTGAGTGAGCTGTACCTGCGG
AGGAACCGCATCCCCAGCCTGGCTGAGCTCTTCTACCTGAAGGGGCTGCCGCGTCTGCGGGTGCTGTGGCTGGCCGAGAACCCGTGCTGCGGCACCAGCCCCCAC
CGCTACCGCATGACCGTGCTGCGCACCCTGCCGCGCCTACAGAAGCTGGACAACCAGGCTGTGACGGAGGAGGAGCTGTCCCGTGCACTGAGTGAGGGAGAGGAG
ATCACTGCGGCCCCAGAGAGAGAGGGCACAGGCCACGGCGGCCCCAAGCTATGCTGCACACTGAGCTCCCTCAGCTCCGCTGCTGAGACTGGCCGGGACCCGCTG
GACAGCGAGGAGGAGGCAACCAGCGGCGCCCAGGATGAACGTGGCCTGAAGCCGCCTTCCCGGGGCCAGTTTCCTTCCCTCTCAGCCAGGGATGCCTCGAGCAGC
CACAGGGGCAGGAACGTCCTGACTGCCATCCTGCTGCTGCTGCGGGAGCTGGATGCAGAGGGGCTGGAGGCCGTGCAGCAGACTGTGGGCAGCCGGCTGCAGGCC
CTGCGTGGGGAAGAGGTGCAGGAGCACGCCGAGTGA
Show »
ATGAAGCTGACGCGGAAGATGGTTCTGACCCGGGCCAAGGCCTCGGAGCTGCACAGCGTGCGCAAGCTCAACTGCTGGGGCAGCCGCCTCACAGATATCTCCATT
TGCCAGGAGATGCCCAGCCTGGAGGTGATCACGCTCAGTGTCAACAGCATCTCCACCCTGGAGCCTGTGAGCCGGTGCCAGCGCCTGAGTGAGCTGTACCTGCGG
AGGAACCGCATCCCCAGCCTGGCTGAGCTCTTCTACCTGAAGGGGCTGCCGCGTCTGCGGGTGCTGTGGCTGGCCGAGAACCCGTGCTGCGGCACCAGCCCCCAC
CGCTACCGCATGACCGTGCTGCGCACCCTGCCGCGCCTACAGAAGCTGGACAACCAGGCTGTGACGGAGGAGGAGCTGTCCCGTGCACTGAGTGAGGGAGAGGAG
ATCACTGCGGCCCCAGAGAGAGAGGGCACAGGCCACGGCGGCCCCAAGCTATGCTGCACACTGAGCTCCCTCAGCTCCGCTGCTGAGACTGGCCGGGACCCGCTG
GACAGCGAGGAGGAGGCAACCAGCGGCGCCCAGGATGAACGTGGCCTGAAGCCGCCTTCCCGGGGCCAGTTTCCTTCCCTCTCAGCCAGGGATGCCTCGAGCAGC
CACAGGGGCAGGAACGTCCTGACTGCCATCCTGCTGCTGCTGCGGGAGCTGGATGCAGAGGGGCTGGAGGCCGTGCAGCAGACTGTGGGCAGCCGGCTGCAGGCC
CTGCGTGGGGAAGAGGTGCAGGAGCACGCCGAGTGA
Show »
>C21orf2|755|protein
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPH
RYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSS
HRGRNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE
Show »
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPH
RYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSS
HRGRNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE
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 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Jacquemont, 2006 | France | aCGH |  | | ASD | - | - | - | - | 29 | - | 29 |
Linkage Studies Top