Evidence Details for RPH3AL
Basic Information Top
| Gene Symbol: | RPH3AL ( NOC2 ) |
|---|---|
| Gene Full Name: | rabphilin 3A-like (without C2 domains) |
| Band: | 17p13.3 |
| Quick Links | Entrez ID:9501; OMIM: 604881; Uniprot ID:RPH3L_HUMAN; ENSEMBL ID: ENSG00000181031; HGNC ID: 10296 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RPH3AL|9501|nucleotide
ATGGCCGACACCATCTTCGGCAGCGGGAATGATCAGTGGGTTTGCCCCAATGACCGGCAGCTTGCCCTTCGAGCCAAGCTGCAGACGGGCTGGTCCGTGCACACC
TACCAGACGGAGAAGCAGAGGAGGAAGCAGCACCTCAGCCCGGCGGAGGTGGAGGCCATCCTGCAGGTCATCCAGAGGGCAGAGCGGCTCGACGTCCTGGAGCAG
CAGAGAATCGGGCGGCTGGTGGAGCGGCTGGAGACCATGAGGCGGAATGTGATGGGGAACGGCCTGTCCCAGTGTCTGCTCTGCGGGGAGGTGCTGGGCTTCCTG
GGCAGCTCGTCGGTGTTCTGCAAAGACTGCAGGAAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATC
TGCAGTGAGCAAAGAGAGGTCTGGAAGAGGTCGGGGGCCTGGTTCTACAAAGGGCTCCCCAAGTATATCTTGCCCCTGAAGACCCCTGGCCGAGCTGATGACCCC
CACTTCCGACCTTTGCCCACGGAACCGGCAGAGCGAGAGCCCAGAAGCTCTGAGACCAGCCGCATCTACACGTGGGCCCGAGGAAGAGTGGTTTCCAGTGACAGT
GACAGTGACTCGGATCTTAGCTCCTCCAGCCTAGAGGACAGACTCCCATCCACTGGGGTCAGGGACCGGAAAGGCGACAAACCCTGGAAGGAGTCAGGTGGCAGC
GTGGAGGCCCCCAGGATGGGGTTCACCCACCCGCCGGGCCACCTCTCTGGGTGCCAGAGCAGCCTGGCCAGTGGTGAGACGGGGACAGGCTCTGCTGACCCGCCA
GGGGGACCCCGCCCCGGGCTGACCCGAAGGGCCCCGGTAAAAGACACACCTGGACGAGCCCCCGCTGCTGACGCAGCTCCAGCAGGCCCCTCCAGCTGCCTGGGC
TGA
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ATGGCCGACACCATCTTCGGCAGCGGGAATGATCAGTGGGTTTGCCCCAATGACCGGCAGCTTGCCCTTCGAGCCAAGCTGCAGACGGGCTGGTCCGTGCACACC
TACCAGACGGAGAAGCAGAGGAGGAAGCAGCACCTCAGCCCGGCGGAGGTGGAGGCCATCCTGCAGGTCATCCAGAGGGCAGAGCGGCTCGACGTCCTGGAGCAG
CAGAGAATCGGGCGGCTGGTGGAGCGGCTGGAGACCATGAGGCGGAATGTGATGGGGAACGGCCTGTCCCAGTGTCTGCTCTGCGGGGAGGTGCTGGGCTTCCTG
GGCAGCTCGTCGGTGTTCTGCAAAGACTGCAGGAAGAAAGTCTGCACCAAATGTGGGATCGAGGCCTCCCCTGGCCAGAAGCGGCCCCTGTGGCTGTGTAAGATC
TGCAGTGAGCAAAGAGAGGTCTGGAAGAGGTCGGGGGCCTGGTTCTACAAAGGGCTCCCCAAGTATATCTTGCCCCTGAAGACCCCTGGCCGAGCTGATGACCCC
CACTTCCGACCTTTGCCCACGGAACCGGCAGAGCGAGAGCCCAGAAGCTCTGAGACCAGCCGCATCTACACGTGGGCCCGAGGAAGAGTGGTTTCCAGTGACAGT
GACAGTGACTCGGATCTTAGCTCCTCCAGCCTAGAGGACAGACTCCCATCCACTGGGGTCAGGGACCGGAAAGGCGACAAACCCTGGAAGGAGTCAGGTGGCAGC
GTGGAGGCCCCCAGGATGGGGTTCACCCACCCGCCGGGCCACCTCTCTGGGTGCCAGAGCAGCCTGGCCAGTGGTGAGACGGGGACAGGCTCTGCTGACCCGCCA
GGGGGACCCCGCCCCGGGCTGACCCGAAGGGCCCCGGTAAAAGACACACCTGGACGAGCCCCCGCTGCTGACGCAGCTCCAGCAGGCCCCTCCAGCTGCCTGGGC
TGA
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>RPH3AL|9501|protein
MADTIFGSGNDQWVCPNDRQLALRAKLQTGWSVHTYQTEKQRRKQHLSPAEVEAILQVIQRAERLDVLEQQRIGRLVERLETMRRNVMGNGLSQCLLCGEVLGFL
GSSSVFCKDCRKKVCTKCGIEASPGQKRPLWLCKICSEQREVWKRSGAWFYKGLPKYILPLKTPGRADDPHFRPLPTEPAEREPRSSETSRIYTWARGRVVSSDS
DSDSDLSSSSLEDRLPSTGVRDRKGDKPWKESGGSVEAPRMGFTHPPGHLSGCQSSLASGETGTGSADPPGGPRPGLTRRAPVKDTPGRAPAADAAPAGPSSCLG
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MADTIFGSGNDQWVCPNDRQLALRAKLQTGWSVHTYQTEKQRRKQHLSPAEVEAILQVIQRAERLDVLEQQRIGRLVERLETMRRNVMGNGLSQCLLCGEVLGFL
GSSSVFCKDCRKKVCTKCGIEASPGQKRPLWLCKICSEQREVWKRSGAWFYKGLPKYILPLKTPGRADDPHFRPLPTEPAEREPRSSETSRIYTWARGRVVSSDS
DSDSDLSSSSLEDRLPSTGVRDRKGDKPWKESGGSVEAPRMGFTHPPGHLSGCQSSLASGETGTGSADPPGGPRPGLTRRAPVKDTPGRAPAADAAPAGPSSCLG
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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 | 1 (1) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 6 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| MIXED/OTHERS | |||||||||||
| Anney R, 2012_1 | - | Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray | 1301 | - (-) |  | | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
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.