Evidence Details for RCL1
Basic Information Top
| Gene Symbol: | RCL1 ( RNAC,RPCL1 ) |
|---|---|
| Gene Full Name: | RNA terminal phosphate cyclase-like 1 |
| Band: | 9p24.1 |
| Quick Links | Entrez ID:10171; OMIM: 611405; Uniprot ID:RCL1_HUMAN; ENSEMBL ID: ENSG00000120158; HGNC ID: 17687 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RCL1|10171|nucleotide
ATGGCGACTCAGGCGCACTCCCTCAGCTACGCAGGGTGCAACTTCTTGCGCCAACGTCTGGTCCTGTCTACCCTGAGCGGGCGCCCCGTCAAAATCCGAAAGATT
CGGGCCAGAGACGACAACCCGGGCCTCCGAGATTTTGAAGCCAGCTTCATAAGGCTATTGGACAAAATAACGAATGGTTCTCGAATTGAAATAAACCAAACAGGA
ACAACCTTATATTATCAGCCTGGCCTCCTGTATGGTGGATCTGTGGAACATGACTGTAGCGTCCTTCGTGGCATTGGGTATTACCTGGAGAGTCTTCTTTGCTTG
GCTCCATTTATGAAGCACCCGTTAAAAATAGTTCTACGAGGAGTGACCAATGATCAGGTTGACCCTTCAGTTGATGTTCTTAAGGCAACAGCACTCCCTTTGTTG
AAACAATTTGGGATTGATGGTGAATCATTTGAACTGAAGATTGTGCGACGGGGAATGCCTCCCGGAGGAGGAGGCGAAGTGGTTTTCTCATGTCCTGTGAGGAAG
GTCTTGAAGCCCATTCAACTCACAGATCCAGGAAAAATCAAACGTATTAGAGGAATGGCGTACTCTGTACGTGTGTCACCTCAGATGGCGAACCGGATTGTGGAT
TCTGCAAGGAGCATCCTCAACAAGTTCATACCTGATATCTATATTTACACAGATCACATGAAAGGAGTCAACTCTGGGAAGTCTCCGGGCTTTGGGTTGTCACTG
GTTGCTGAGACCACCAGTGGCACCTTCCTCAGTGCTGAACTGGCCTCCAACCCCCAGGGCCAGGGAGCAGCAGTACTTCCAGAGGACCTTGGCAGGAACTGTGCC
CGGCTGCTGCTGGAGGAAATCTACAGGGGTGGATGCGTAGACTCGACCAACCAAAGCCTGGCGCTACTACTCATGACCCTTGGACAGCAGGATGTTTCCAAAGTC
CTGCTAGGCCCTCTCTCTCCCTACACGATAGAATTTTTGCGGCATTTGAAGAGCTTTTTCCAGATTATGTTTAAAATTGAAACCAAGCCATGTGGTGAAGAACTC
AAGGGTGGGGATAAAGTGCTGATGACCTGTGTTGGCATTGGTTTCTCCAACCTTAGCAAGACCCTCAAGTGA
Show »
ATGGCGACTCAGGCGCACTCCCTCAGCTACGCAGGGTGCAACTTCTTGCGCCAACGTCTGGTCCTGTCTACCCTGAGCGGGCGCCCCGTCAAAATCCGAAAGATT
CGGGCCAGAGACGACAACCCGGGCCTCCGAGATTTTGAAGCCAGCTTCATAAGGCTATTGGACAAAATAACGAATGGTTCTCGAATTGAAATAAACCAAACAGGA
ACAACCTTATATTATCAGCCTGGCCTCCTGTATGGTGGATCTGTGGAACATGACTGTAGCGTCCTTCGTGGCATTGGGTATTACCTGGAGAGTCTTCTTTGCTTG
GCTCCATTTATGAAGCACCCGTTAAAAATAGTTCTACGAGGAGTGACCAATGATCAGGTTGACCCTTCAGTTGATGTTCTTAAGGCAACAGCACTCCCTTTGTTG
AAACAATTTGGGATTGATGGTGAATCATTTGAACTGAAGATTGTGCGACGGGGAATGCCTCCCGGAGGAGGAGGCGAAGTGGTTTTCTCATGTCCTGTGAGGAAG
GTCTTGAAGCCCATTCAACTCACAGATCCAGGAAAAATCAAACGTATTAGAGGAATGGCGTACTCTGTACGTGTGTCACCTCAGATGGCGAACCGGATTGTGGAT
TCTGCAAGGAGCATCCTCAACAAGTTCATACCTGATATCTATATTTACACAGATCACATGAAAGGAGTCAACTCTGGGAAGTCTCCGGGCTTTGGGTTGTCACTG
GTTGCTGAGACCACCAGTGGCACCTTCCTCAGTGCTGAACTGGCCTCCAACCCCCAGGGCCAGGGAGCAGCAGTACTTCCAGAGGACCTTGGCAGGAACTGTGCC
CGGCTGCTGCTGGAGGAAATCTACAGGGGTGGATGCGTAGACTCGACCAACCAAAGCCTGGCGCTACTACTCATGACCCTTGGACAGCAGGATGTTTCCAAAGTC
CTGCTAGGCCCTCTCTCTCCCTACACGATAGAATTTTTGCGGCATTTGAAGAGCTTTTTCCAGATTATGTTTAAAATTGAAACCAAGCCATGTGGTGAAGAACTC
AAGGGTGGGGATAAAGTGCTGATGACCTGTGTTGGCATTGGTTTCTCCAACCTTAGCAAGACCCTCAAGTGA
Show »
>RCL1|10171|protein
MATQAHSLSYAGCNFLRQRLVLSTLSGRPVKIRKIRARDDNPGLRDFEASFIRLLDKITNGSRIEINQTGTTLYYQPGLLYGGSVEHDCSVLRGIGYYLESLLCL
APFMKHPLKIVLRGVTNDQVDPSVDVLKATALPLLKQFGIDGESFELKIVRRGMPPGGGGEVVFSCPVRKVLKPIQLTDPGKIKRIRGMAYSVRVSPQMANRIVD
SARSILNKFIPDIYIYTDHMKGVNSGKSPGFGLSLVAETTSGTFLSAELASNPQGQGAAVLPEDLGRNCARLLLEEIYRGGCVDSTNQSLALLLMTLGQQDVSKV
LLGPLSPYTIEFLRHLKSFFQIMFKIETKPCGEELKGGDKVLMTCVGIGFSNLSKTLK
Show »
MATQAHSLSYAGCNFLRQRLVLSTLSGRPVKIRKIRARDDNPGLRDFEASFIRLLDKITNGSRIEINQTGTTLYYQPGLLYGGSVEHDCSVLRGIGYYLESLLCL
APFMKHPLKIVLRGVTNDQVDPSVDVLKATALPLLKQFGIDGESFELKIVRRGMPPGGGGEVVFSCPVRKVLKPIQLTDPGKIKRIRGMAYSVRVSPQMANRIVD
SARSILNKFIPDIYIYTDHMKGVNSGKSPGFGLSLVAETTSGTFLSAELASNPQGQGAAVLPEDLGRNCARLLLEEIYRGGCVDSTNQSLALLLMTLGQQDVSKV
LLGPLSPYTIEFLRHLKSFFQIMFKIETKPCGEELKGGDKVLMTCVGIGFSNLSKTLK
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 (2) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 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 | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top