Evidence Details for C21orf33
Basic Information Top
| Gene Symbol: | C21orf33 ( ES1,GT335,HES1,KNPH,KNPI ) |
|---|---|
| Gene Full Name: | chromosome 21 open reading frame 33 |
| Band: | 21q22.3 |
| Quick Links | Entrez ID:8209; OMIM: 601659; Uniprot ID:ES1_HUMAN; ENSEMBL ID: ENSG00000160221; HGNC ID: 1273 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>C21orf33|8209|nucleotide
ATGGCGGCTGTGAGGGCCCTGGTGGCCTCGAGGCTCGCTGCGGCATCTGCATTCACGTCCCTGTCCCCCGGCGGTCGGACGCCTTCCCAGCGCGCAGCCCTTCAC
CTCTCCGTGCCGCGCCCCGCGGCCAGGGTCGCGCTGGTGCTGTCTGGATGCGGAGTCTACGATGGGACCGAGATCCACGAGGCCTCGGCGATCCTGGTGCACCTG
AGCCGTGGAGGGGCTGAAGTCCAGATCTTTGCTCCTGACGTCCCTCAGATGCACGTGATTGACCACACCAAGGGGCAGCCGTCCGAAGGCGAGAGCAGGAATGTT
TTGACCGAGTCTGCGAGGATCGCCCGTGGCAAAATCACAGACCTGGCCAACCTCAGTGCAGCCAACCATGATGCTGCCATCTTTCCAGGAGGCTTTGGAGCGGCT
AAAAACCTGAGCACGTTTGCCGTGGACGGGAAAGATTGCAAGGTGAATAAAGAAGTGGAGCGTGTCCTGAAGGAGTTCCACCAGGCCGGGAAGCCCATCGGCTTG
TGCTGCATTGCACCTGTCCTCGCGGCCAAGGTGCTCAGAGGCGTCGAGGTGACTGTGGGCCACGAGCAGGAGGAAGGTGGCAAGTGGCCTTATGCCGGGACCGCA
GAGGCCATCAAGGCCCTGGGTGCCAAGCACTGCGTGAAGGAAGTGGTCGAAGCTCACGTGGACCAGAAAAACAAGGTGGTCACGACCCCAGCCTTCATGTGCGAG
ACGGCACTCCACTACATCCATGATGGGATCGGAGCCATGGTGAGGAAGGTGCTGGAACTCACTGGAAAGTGA
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ATGGCGGCTGTGAGGGCCCTGGTGGCCTCGAGGCTCGCTGCGGCATCTGCATTCACGTCCCTGTCCCCCGGCGGTCGGACGCCTTCCCAGCGCGCAGCCCTTCAC
CTCTCCGTGCCGCGCCCCGCGGCCAGGGTCGCGCTGGTGCTGTCTGGATGCGGAGTCTACGATGGGACCGAGATCCACGAGGCCTCGGCGATCCTGGTGCACCTG
AGCCGTGGAGGGGCTGAAGTCCAGATCTTTGCTCCTGACGTCCCTCAGATGCACGTGATTGACCACACCAAGGGGCAGCCGTCCGAAGGCGAGAGCAGGAATGTT
TTGACCGAGTCTGCGAGGATCGCCCGTGGCAAAATCACAGACCTGGCCAACCTCAGTGCAGCCAACCATGATGCTGCCATCTTTCCAGGAGGCTTTGGAGCGGCT
AAAAACCTGAGCACGTTTGCCGTGGACGGGAAAGATTGCAAGGTGAATAAAGAAGTGGAGCGTGTCCTGAAGGAGTTCCACCAGGCCGGGAAGCCCATCGGCTTG
TGCTGCATTGCACCTGTCCTCGCGGCCAAGGTGCTCAGAGGCGTCGAGGTGACTGTGGGCCACGAGCAGGAGGAAGGTGGCAAGTGGCCTTATGCCGGGACCGCA
GAGGCCATCAAGGCCCTGGGTGCCAAGCACTGCGTGAAGGAAGTGGTCGAAGCTCACGTGGACCAGAAAAACAAGGTGGTCACGACCCCAGCCTTCATGTGCGAG
ACGGCACTCCACTACATCCATGATGGGATCGGAGCCATGGTGAGGAAGGTGCTGGAACTCACTGGAAAGTGA
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>C21orf33|8209|protein
MAAVRALVASRLAAASAFTSLSPGGRTPSQRAALHLSVPRPAARVALVLSGCGVYDGTEIHEASAILVHLSRGGAEVQIFAPDVPQMHVIDHTKGQPSEGESRNV
LTESARIARGKITDLANLSAANHDAAIFPGGFGAAKNLSTFAVDGKDCKVNKEVERVLKEFHQAGKPIGLCCIAPVLAAKVLRGVEVTVGHEQEEGGKWPYAGTA
EAIKALGAKHCVKEVVEAHVDQKNKVVTTPAFMCETALHYIHDGIGAMVRKVLELTGK
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MAAVRALVASRLAAASAFTSLSPGGRTPSQRAALHLSVPRPAARVALVLSGCGVYDGTEIHEASAILVHLSRGGAEVQIFAPDVPQMHVIDHTKGQPSEGESRNV
LTESARIARGKITDLANLSAANHDAAIFPGGFGAAKNLSTFAVDGKDCKVNKEVERVLKEFHQAGKPIGLCCIAPVLAAKVLRGVEVTVGHEQEEGGKWPYAGTA
EAIKALGAKHCVKEVVEAHVDQKNKVVTTPAFMCETALHYIHDGIGAMVRKVLELTGK
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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) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (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