Evidence Details for RPGRIP1L
Basic Information Top
Gene Symbol: | RPGRIP1L ( CORS3,DKFZp686C0668,FTM,JBTS7,KIAA1005,MKS5,NPHP8 ) |
---|---|
Gene Full Name: | RPGRIP1-like |
Band: | 16q12.2 |
Quick Links | Entrez ID:23322; OMIM: 610937; Uniprot ID:FTM_HUMAN; ENSEMBL ID: ENSG00000103494; HGNC ID: 29168 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>RPGRIP1L|23322|nucleotide
ATGTCTGGTCCAACTGATGAGACTGCAGGAGACTTGCCTGTGAAAGATACAGGTCTAAACCTCTTTGGAATGGGAGGGTTACAAGAAACTTCAACAACACGGACA
ATGAAGTCTCGCCAGGCAGTGTCACGTGTCAGTCGTGAGGAACTGGAAGACAGATTTTTGCGTTTGCATGATGAGAACATTTTACTTAAACAGCATGCCCGCAAG
CAGGAGGATAAAATTAAAAGAATGGCCACCAAGTTAATACGGCTAGTTAATGACAAGAAAAGATATGAGCGGGTTGGTGGCGGCCCCAAGCGGCTGGGACGAGAT
GTGGAAATGGAAGAAATGATTGAGCAGCTGCAAGAGAAAGTTCATGAGCTTGAAAAACAAAATGAAACCCTCAAAAACAGACTGATTTCAGCCAAACAGCAACTT
CAAACCCAGGGTTACAGGCAAACTCCATACAATAATGTACAATCTCGTATTAACACTGGGCGTAGAAAAGCAAATGAAAATGCTGGTTTACAGGAATGCCCCAGG
AAAGGTATAAAATTCCAAGATGCAGATGTAGCAGAAACTCCACATCCCATGTTTACAAAATATGGCAACAGTTTACTTGAAGAAGCCAGAGGAGAAATAAGAAAT
TTAGAAAACGTTATTCAGTCACAAAGAGGCCAGATAGAGGAGTTAGAGCACTTGGCTGAGATCCTGAAAACTCAGTTGAGGAGAAAAGAAAATGAAATTGAGTTA
TCTCTTCTTCAGCTTCGAGAACAGCAAGCTACAGATCAAAGGTCAAATATTCGGGACAATGTAGAAATGATTAAGCTTCATAAACAGCTAGTAGAGAAAAGCAAT
GCTCTTTCAGCAATGGAAGGAAAATTTATTCAGCTTCAAGAGAAGCAAAGAACTCTCAGAATCAGCCACGATGCTTTGATGGCAAATGGGGATGAATTAAACATG
CAACTTAAAGAGCAGCGTTTAAAATGCTGCAGTCTTGAGAAACAATTACATTCTATGAAGTTTTCTGAAAGAAGAATAGAAGAGCTGCAGGATAGAATTAATGAT
TTAGAAAAGGAACGGGAACTTTTAAAGGAAAACTATGATAAACTTTATGACAGTGCCTTCAGTGCTGCCCATGAAGAGCAATGGAAGTTAAAGGAGCAACAGCTG
Show »
ATGTCTGGTCCAACTGATGAGACTGCAGGAGACTTGCCTGTGAAAGATACAGGTCTAAACCTCTTTGGAATGGGAGGGTTACAAGAAACTTCAACAACACGGACA
ATGAAGTCTCGCCAGGCAGTGTCACGTGTCAGTCGTGAGGAACTGGAAGACAGATTTTTGCGTTTGCATGATGAGAACATTTTACTTAAACAGCATGCCCGCAAG
CAGGAGGATAAAATTAAAAGAATGGCCACCAAGTTAATACGGCTAGTTAATGACAAGAAAAGATATGAGCGGGTTGGTGGCGGCCCCAAGCGGCTGGGACGAGAT
GTGGAAATGGAAGAAATGATTGAGCAGCTGCAAGAGAAAGTTCATGAGCTTGAAAAACAAAATGAAACCCTCAAAAACAGACTGATTTCAGCCAAACAGCAACTT
CAAACCCAGGGTTACAGGCAAACTCCATACAATAATGTACAATCTCGTATTAACACTGGGCGTAGAAAAGCAAATGAAAATGCTGGTTTACAGGAATGCCCCAGG
AAAGGTATAAAATTCCAAGATGCAGATGTAGCAGAAACTCCACATCCCATGTTTACAAAATATGGCAACAGTTTACTTGAAGAAGCCAGAGGAGAAATAAGAAAT
TTAGAAAACGTTATTCAGTCACAAAGAGGCCAGATAGAGGAGTTAGAGCACTTGGCTGAGATCCTGAAAACTCAGTTGAGGAGAAAAGAAAATGAAATTGAGTTA
TCTCTTCTTCAGCTTCGAGAACAGCAAGCTACAGATCAAAGGTCAAATATTCGGGACAATGTAGAAATGATTAAGCTTCATAAACAGCTAGTAGAGAAAAGCAAT
GCTCTTTCAGCAATGGAAGGAAAATTTATTCAGCTTCAAGAGAAGCAAAGAACTCTCAGAATCAGCCACGATGCTTTGATGGCAAATGGGGATGAATTAAACATG
CAACTTAAAGAGCAGCGTTTAAAATGCTGCAGTCTTGAGAAACAATTACATTCTATGAAGTTTTCTGAAAGAAGAATAGAAGAGCTGCAGGATAGAATTAATGAT
TTAGAAAAGGAACGGGAACTTTTAAAGGAAAACTATGATAAACTTTATGACAGTGCCTTCAGTGCTGCCCATGAAGAGCAATGGAAGTTAAAGGAGCAACAGCTG
Show »
>RPGRIP1L|23322|protein
MSGPTDETAGDLPVKDTGLNLFGMGGLQETSTTRTMKSRQAVSRVSREELEDRFLRLHDENILLKQHARKQEDKIKRMATKLIRLVNDKKRYERVGGGPKRLGRD
VEMEEMIEQLQEKVHELEKQNETLKNRLISAKQQLQTQGYRQTPYNNVQSRINTGRRKANENAGLQECPRKGIKFQDADVAETPHPMFTKYGNSLLEEARGEIRN
LENVIQSQRGQIEELEHLAEILKTQLRRKENEIELSLLQLREQQATDQRSNIRDNVEMIKLHKQLVEKSNALSAMEGKFIQLQEKQRTLRISHDALMANGDELNM
QLKEQRLKCCSLEKQLHSMKFSERRIEELQDRINDLEKERELLKENYDKLYDSAFSAAHEEQWKLKEQQLKVQIAQLETALKSDLTDKTEILDRLKTERDQNEKL
VQENRELQLQYLEQKQQLDELKKRIKLYNQENDINADELSEALLLIKAQKEQKNGDLSFLVKVDSEINKDLERSMRELQATHAETVQELEKTRNMLIMQHKINKD
Show »
MSGPTDETAGDLPVKDTGLNLFGMGGLQETSTTRTMKSRQAVSRVSREELEDRFLRLHDENILLKQHARKQEDKIKRMATKLIRLVNDKKRYERVGGGPKRLGRD
VEMEEMIEQLQEKVHELEKQNETLKNRLISAKQQLQTQGYRQTPYNNVQSRINTGRRKANENAGLQECPRKGIKFQDADVAETPHPMFTKYGNSLLEEARGEIRN
LENVIQSQRGQIEELEHLAEILKTQLRRKENEIELSLLQLREQQATDQRSNIRDNVEMIKLHKQLVEKSNALSAMEGKFIQLQEKQRTLRISHDALMANGDELNM
QLKEQRLKCCSLEKQLHSMKFSERRIEELQDRINDLEKERELLKENYDKLYDSAFSAAHEEQWKLKEQQLKVQIAQLETALKSDLTDKTEILDRLKTERDQNEKL
VQENRELQLQYLEQKQQLDELKKRIKLYNQENDINADELSEALLLIKAQKEQKNGDLSFLVKVDSEINKDLERSMRELQATHAETVQELEKTRNMLIMQHKINKD
Show »
Evidence summary Top
Click 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) | Yes | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
Inheritance | AR |
---|---|
OMIM | COACH syndrome (216360) |
Description | Joubert syndrome 7, Meckel syndrome, COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) |
Reference(s) | 19574260; |
Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Gregory, 2009 | USA | aCGH | ASD | - | - | - | - | 119 | 54 | 173 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
Contact 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.