Evidence Details for RP1L1
Basic Information Top
| Gene Symbol: | RP1L1 ( DCDC4B ) |
|---|---|
| Gene Full Name: | retinitis pigmentosa 1-like 1 |
| Band: | 8p23.1 |
| Quick Links | Entrez ID:94137; OMIM: 608581; Uniprot ID:A6NKC6_HUMAN; ENSEMBL ID: ENSG00000183638; HGNC ID: 15946 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RP1L1|94137|nucleotide
ATGAACAGCACCCCCAGGAATGCCCAGGCCCCGAGCCACCGTGAGTGCTTCCTGCCCTCTGTGGCTCGCACCCCCTCGGTCACCAAGGTCACGCCAGCCAAGAAG
ATCACCTTCCTCAAGCGAGGGGATCCACGGTTTGCTGGGGTCCGCCTGGCCGTTCACCAGCGCGCCTTTAAGACCTTCAGCGCCCTCATGGACGAGCTCTCCCAG
CGCGTGCCTCTCTCCTTTGGGGTGCGCTCTGTCACCACACCCCGGGGCCTGCATAGCCTCAGCGCCCTGGAGCAGCTGGAAGATGGAGGCTGCTACCTCTGCTCT
GATAAGAAGCCCCCCAAGACCCCCAGTGGACCAGGCCGGCCACAGGAGAGAAACCCCACTGCTCAGCAGTTGCGGGATGTCGAAGGCCAGCGTGAAGCCCCAGGC
ACCTCCTCCTCCCGGAAGAGTCTTAAAACCCCCCGGAGGATACTGCTGATTAAGAACATGGACCCTCGCCTCCAGCAGACAGTGGTTCTCAGTCACAGGAATACT
AGGAACCTGGCCGCCTTTCTCGGCAAAGCCTCAGATCTCCTGCGCTTTCCTGTGAAGCAGTTGTACACGACCAGCGGGAAAAAGGTGGACTCGCTGCAGGCCCTG
CTGCACAGCCCCTCTGTGCTGGTGTGTGCCGGGCATGAGGCCTTCAGAACCCCAGCCATGAAAAATGCCAGGAGAAGCGAGGCTGAAACTTTATCTGGGCTGACT
TCAAGAAACAAAAACGGGAGCTGGGGGCCAAAGACCAAGCCGAGTGTGATCCATTCGCGGTCTCCGCCAGGCAGCACGCCACGGCTGCCAGAAAGGCCTGGTCCT
AGCAACCCCCCGGTGGGCCCTGCTCCTGGCAGGCACCCTCAGGACACGCCAGCTCAGTCGGGCCCGCTGGTGGCTGGCGATGACATGAAGAAGAAGGTCCGCATG
AATGAGGACGGCAGCCTGTCCGTGGAGATGAAAGTCCGCTTCCACCTGGTCGGCGAGGACACGCTCCTATGGTCCCGGAGGATGGGCAGGGCCAGCGCCCTCACG
GCAGCCAGTGGGGAAGACCCCGTTCTGGGGGAGGTAGACCCCCTCTGCTGTGTGTGGGAGGGCTACCCTTGGGGCTTCTCAGAGCCTGGGGTGTGGGGACCCCGG
Show »
ATGAACAGCACCCCCAGGAATGCCCAGGCCCCGAGCCACCGTGAGTGCTTCCTGCCCTCTGTGGCTCGCACCCCCTCGGTCACCAAGGTCACGCCAGCCAAGAAG
ATCACCTTCCTCAAGCGAGGGGATCCACGGTTTGCTGGGGTCCGCCTGGCCGTTCACCAGCGCGCCTTTAAGACCTTCAGCGCCCTCATGGACGAGCTCTCCCAG
CGCGTGCCTCTCTCCTTTGGGGTGCGCTCTGTCACCACACCCCGGGGCCTGCATAGCCTCAGCGCCCTGGAGCAGCTGGAAGATGGAGGCTGCTACCTCTGCTCT
GATAAGAAGCCCCCCAAGACCCCCAGTGGACCAGGCCGGCCACAGGAGAGAAACCCCACTGCTCAGCAGTTGCGGGATGTCGAAGGCCAGCGTGAAGCCCCAGGC
ACCTCCTCCTCCCGGAAGAGTCTTAAAACCCCCCGGAGGATACTGCTGATTAAGAACATGGACCCTCGCCTCCAGCAGACAGTGGTTCTCAGTCACAGGAATACT
AGGAACCTGGCCGCCTTTCTCGGCAAAGCCTCAGATCTCCTGCGCTTTCCTGTGAAGCAGTTGTACACGACCAGCGGGAAAAAGGTGGACTCGCTGCAGGCCCTG
CTGCACAGCCCCTCTGTGCTGGTGTGTGCCGGGCATGAGGCCTTCAGAACCCCAGCCATGAAAAATGCCAGGAGAAGCGAGGCTGAAACTTTATCTGGGCTGACT
TCAAGAAACAAAAACGGGAGCTGGGGGCCAAAGACCAAGCCGAGTGTGATCCATTCGCGGTCTCCGCCAGGCAGCACGCCACGGCTGCCAGAAAGGCCTGGTCCT
AGCAACCCCCCGGTGGGCCCTGCTCCTGGCAGGCACCCTCAGGACACGCCAGCTCAGTCGGGCCCGCTGGTGGCTGGCGATGACATGAAGAAGAAGGTCCGCATG
AATGAGGACGGCAGCCTGTCCGTGGAGATGAAAGTCCGCTTCCACCTGGTCGGCGAGGACACGCTCCTATGGTCCCGGAGGATGGGCAGGGCCAGCGCCCTCACG
GCAGCCAGTGGGGAAGACCCCGTTCTGGGGGAGGTAGACCCCCTCTGCTGTGTGTGGGAGGGCTACCCTTGGGGCTTCTCAGAGCCTGGGGTGTGGGGACCCCGG
Show »
>RP1L1|94137|protein
MNSTPRNAQAPSHRECFLPSVARTPSVTKVTPAKKITFLKRGDPRFAGVRLAVHQRAFKTFSALMDELSQRVPLSFGVRSVTTPRGLHSLSALEQLEDGGCYLCS
DKKPPKTPSGPGRPQERNPTAQQLRDVEGQREAPGTSSSRKSLKTPRRILLIKNMDPRLQQTVVLSHRNTRNLAAFLGKASDLLRFPVKQLYTTSGKKVDSLQAL
LHSPSVLVCAGHEAFRTPAMKNARRSEAETLSGLTSRNKNGSWGPKTKPSVIHSRSPPGSTPRLPERPGPSNPPVGPAPGRHPQDTPAQSGPLVAGDDMKKKVRM
NEDGSLSVEMKVRFHLVGEDTLLWSRRMGRASALTAASGEDPVLGEVDPLCCVWEGYPWGFSEPGVWGPRPCRVGCREVFGRGGQPGPKYEIWTNPLHASQGERV
AARKRWGLAQHVRCSGLWGHGTAGRERCSQDSASPASSTGLPEGSEPESSCCPRTPEDGVDSASPSAQIGAERKAGGSLGEDPGLCIDGAGLGGPEQGGRLTPRA
Show »
MNSTPRNAQAPSHRECFLPSVARTPSVTKVTPAKKITFLKRGDPRFAGVRLAVHQRAFKTFSALMDELSQRVPLSFGVRSVTTPRGLHSLSALEQLEDGGCYLCS
DKKPPKTPSGPGRPQERNPTAQQLRDVEGQREAPGTSSSRKSLKTPRRILLIKNMDPRLQQTVVLSHRNTRNLAAFLGKASDLLRFPVKQLYTTSGKKVDSLQAL
LHSPSVLVCAGHEAFRTPAMKNARRSEAETLSGLTSRNKNGSWGPKTKPSVIHSRSPPGSTPRLPERPGPSNPPVGPAPGRHPQDTPAQSGPLVAGDDMKKKVRM
NEDGSLSVEMKVRFHLVGEDTLLWSRRMGRASALTAASGEDPVLGEVDPLCCVWEGYPWGFSEPGVWGPRPCRVGCREVFGRGGQPGPKYEIWTNPLHASQGERV
AARKRWGLAQHVRCSGLWGHGTAGRERCSQDSASPASSTGLPEGSEPESSCCPRTPEDGVDSASPSAQIGAERKAGGSLGEDPGLCIDGAGLGGPEQGGRLTPRA
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 (1) | 1 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 2 (6) |
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) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | 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 | ||||||
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Papanikolaou, 2006 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
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 |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| Fromer M, 2014 | - | - | 94 | De novo mutations in schizophrenia implicate synaptic networks. |
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.