Evidence Details for ORAI3
Basic Information Top
| Gene Symbol: | ORAI3 ( MGC13024,TMEM142C ) |
|---|---|
| Gene Full Name: | ORAI calcium release-activated calcium modulator 3 |
| Band: | 16p11.2 |
| Quick Links | Entrez ID:93129; OMIM: 610930; Uniprot ID:ORAI3_HUMAN; ENSEMBL ID: ENSG00000175938; HGNC ID: 28185 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ORAI3|93129|nucleotide
ATGAAGGGCGGCGAGGGGGACGCGGGCGAGCAGGCCCCGCTGAACCCTGAGGGCGAGAGCCCTGCAGGCTCGGCCACGTACCGGGAGTTCGTGCACCGCGGCTAC
CTGGACCTCATGGGGGCCAGTCAGCACTCGCTGCGGGCGCTCAGCTGGCGCCGCCTCTACCTCAGCCGGGCCAAGCTCAAAGCTTCCAGCCGCACGTCTGCCTTG
CTCTCGGGCTTCGCCATGGTGGCCATGGTGGAGGTGCAGCTGGAGAGTGACCACGAGTACCCACCAGGCCTGCTGGTGGCCTTCAGTGCCTGCACCACCGTGCTG
GTGGCTGTGCACCTCTTTGCACTCATGGTCTCCACGTGTCTGCTGCCCCACATTGAAGCTGTGAGCAACATCCACAACCTCAACTCTGTCCACCAGTCGCCACAC
CAGAGACTGCACCGCTACGTGGAGCTGGCCTGGGGCTTCTCCACTGCCCTGGGCACCTTTCTCTTCCTTGCTGAAGTTGTCCTGGTTGGTTGGGTCAAGTTTGTG
CCCATTGGGGCTCCCTTGGACACACCGACCCCCATGGTGCCCACATCCCGGGTGCCCGGGACTCTGGCACCAGTGGCTACCTCCCTTAGTCCAGCTTCCAATCTC
CCACGGTCCTCTGCGTCTGCAGCACCGTCCCAGGCTGAGCCAGCCTGCCCACCCCGGCAAGCCTGTGGTGGTGGTGGGGCCCATGGGCCAGGCTGGCAAGCAGCC
ATGGCCTCCACAGCCATCATGGTACCCGTGGGGCTCGTGTTTGTGGCCTTTGCCCTGCATTTCTACCGCTCCTTGGTGGCACACAAGACAGACCGCTACAAGCAG
GAACTAGAGGAACTGAATCGCCTGCAGGGGGAGCTGCAGGCTGTGTGA
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ATGAAGGGCGGCGAGGGGGACGCGGGCGAGCAGGCCCCGCTGAACCCTGAGGGCGAGAGCCCTGCAGGCTCGGCCACGTACCGGGAGTTCGTGCACCGCGGCTAC
CTGGACCTCATGGGGGCCAGTCAGCACTCGCTGCGGGCGCTCAGCTGGCGCCGCCTCTACCTCAGCCGGGCCAAGCTCAAAGCTTCCAGCCGCACGTCTGCCTTG
CTCTCGGGCTTCGCCATGGTGGCCATGGTGGAGGTGCAGCTGGAGAGTGACCACGAGTACCCACCAGGCCTGCTGGTGGCCTTCAGTGCCTGCACCACCGTGCTG
GTGGCTGTGCACCTCTTTGCACTCATGGTCTCCACGTGTCTGCTGCCCCACATTGAAGCTGTGAGCAACATCCACAACCTCAACTCTGTCCACCAGTCGCCACAC
CAGAGACTGCACCGCTACGTGGAGCTGGCCTGGGGCTTCTCCACTGCCCTGGGCACCTTTCTCTTCCTTGCTGAAGTTGTCCTGGTTGGTTGGGTCAAGTTTGTG
CCCATTGGGGCTCCCTTGGACACACCGACCCCCATGGTGCCCACATCCCGGGTGCCCGGGACTCTGGCACCAGTGGCTACCTCCCTTAGTCCAGCTTCCAATCTC
CCACGGTCCTCTGCGTCTGCAGCACCGTCCCAGGCTGAGCCAGCCTGCCCACCCCGGCAAGCCTGTGGTGGTGGTGGGGCCCATGGGCCAGGCTGGCAAGCAGCC
ATGGCCTCCACAGCCATCATGGTACCCGTGGGGCTCGTGTTTGTGGCCTTTGCCCTGCATTTCTACCGCTCCTTGGTGGCACACAAGACAGACCGCTACAAGCAG
GAACTAGAGGAACTGAATCGCCTGCAGGGGGAGCTGCAGGCTGTGTGA
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>ORAI3|93129|protein
MKGGEGDAGEQAPLNPEGESPAGSATYREFVHRGYLDLMGASQHSLRALSWRRLYLSRAKLKASSRTSALLSGFAMVAMVEVQLESDHEYPPGLLVAFSACTTVL
VAVHLFALMVSTCLLPHIEAVSNIHNLNSVHQSPHQRLHRYVELAWGFSTALGTFLFLAEVVLVGWVKFVPIGAPLDTPTPMVPTSRVPGTLAPVATSLSPASNL
PRSSASAAPSQAEPACPPRQACGGGGAHGPGWQAAMASTAIMVPVGLVFVAFALHFYRSLVAHKTDRYKQELEELNRLQGELQAV
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MKGGEGDAGEQAPLNPEGESPAGSATYREFVHRGYLDLMGASQHSLRALSWRRLYLSRAKLKASSRTSALLSGFAMVAMVEVQLESDHEYPPGLLVAFSACTTVL
VAVHLFALMVSTCLLPHIEAVSNIHNLNSVHQSPHQRLHRYVELAWGFSTALGTFLFLAEVVLVGWVKFVPIGAPLDTPTPMVPTSRVPGTLAPVATSLSPASNL
PRSSASAAPSQAEPACPPRQACGGGGAHGPGWQAAMASTAIMVPVGLVFVAFALHFYRSLVAHKTDRYKQELEELNRLQGELQAV
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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) | 2 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
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 | ||||||
| Finelli, 2004 | - | FISH |  | | autistic feature | - | - | - | - | 2 | - | 2 |
| Weiss, 2008 | USA, Ireland | aCGH, SNP microarray |  | | ASD | 751 | - | - | - | 2252 | 23502 | 25754 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
Linkage Studies Top