Evidence Details for GUCA1B
Basic Information Top
| Gene Symbol: | GUCA1B ( DKFZp686E1183,GCAP2,GUCA2,RP48 ) |
|---|---|
| Gene Full Name: | guanylate cyclase activator 1B (retina) |
| Band: | 6p21.1 |
| Quick Links | Entrez ID:2979; OMIM: 602275; Uniprot ID:GUC1B_HUMAN; ENSEMBL ID: ENSG00000112599; HGNC ID: 4679 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GUCA1B|2979|nucleotide
ATGGGGCAGGAGTTTAGCTGGGAGGAGGCGGAGGCAGCTGGCGAGATAGATGTGGCGGAGCTCCAGGAGTGGTACAAGAAGTTTGTGATGGAGTGCCCCAGCGGC
ACACTCTTTATGCATGAGTTTAAGCGCTTCTTCAAGGTCACAGACGATGAGGAGGCCTCCCAGTATGTAGAGGGCATGTTCCGAGCCTTCGACAAGAATGGGGAC
AACACCATCGACTTCCTGGAGTACGTGGCAGCTCTGAATCTCGTGCTGAGGGGCACCCTGGAGCACAAGCTGAAGTGGACATTCAAGATCTATGATAAGGATGGC
AATGGCTGCATCGACCGCCTGGAGCTACTCAACATTGTGGAGGGAATTTACCAGCTGAAGAAAGCCTGCCGGCGAGAGCTACAAACTGAGCAAGGCCAGCTGCTC
ACACCCGAGGAGGTCGTGGACAGGATCTTCCTCCTGGTGGATGAGAATGGAGATGGCCAGCTGTCTCTGAACGAGTTTGTTGAAGGTGCCCGTCGGGACAAGTGG
GTGATGAAGATGCTGCAGATGGACATGAATCCCAGCAGCTGGCTCGCTCAGCAGAGACGGAAAAGTGCCATGTTCTGA
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ATGGGGCAGGAGTTTAGCTGGGAGGAGGCGGAGGCAGCTGGCGAGATAGATGTGGCGGAGCTCCAGGAGTGGTACAAGAAGTTTGTGATGGAGTGCCCCAGCGGC
ACACTCTTTATGCATGAGTTTAAGCGCTTCTTCAAGGTCACAGACGATGAGGAGGCCTCCCAGTATGTAGAGGGCATGTTCCGAGCCTTCGACAAGAATGGGGAC
AACACCATCGACTTCCTGGAGTACGTGGCAGCTCTGAATCTCGTGCTGAGGGGCACCCTGGAGCACAAGCTGAAGTGGACATTCAAGATCTATGATAAGGATGGC
AATGGCTGCATCGACCGCCTGGAGCTACTCAACATTGTGGAGGGAATTTACCAGCTGAAGAAAGCCTGCCGGCGAGAGCTACAAACTGAGCAAGGCCAGCTGCTC
ACACCCGAGGAGGTCGTGGACAGGATCTTCCTCCTGGTGGATGAGAATGGAGATGGCCAGCTGTCTCTGAACGAGTTTGTTGAAGGTGCCCGTCGGGACAAGTGG
GTGATGAAGATGCTGCAGATGGACATGAATCCCAGCAGCTGGCTCGCTCAGCAGAGACGGAAAAGTGCCATGTTCTGA
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>GUCA1B|2979|protein
MGQEFSWEEAEAAGEIDVAELQEWYKKFVMECPSGTLFMHEFKRFFKVTDDEEASQYVEGMFRAFDKNGDNTIDFLEYVAALNLVLRGTLEHKLKWTFKIYDKDG
NGCIDRLELLNIVEGIYQLKKACRRELQTEQGQLLTPEEVVDRIFLLVDENGDGQLSLNEFVEGARRDKWVMKMLQMDMNPSSWLAQQRRKSAMF
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MGQEFSWEEAEAAGEIDVAELQEWYKKFVMECPSGTLFMHEFKRFFKVTDDEEASQYVEGMFRAFDKNGDNTIDFLEYVAALNLVLRGTLEHKLKWTFKIYDKDG
NGCIDRLELLNIVEGIYQLKKACRRELQTEQGQLLTPEEVVDRIFLLVDENGDGQLSLNEFVEGARRDKWVMKMLQMDMNPSSWLAQQRRKSAMF
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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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 2 (2) |
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 | ||||||
| Berkel, 2010 | Canada | SNP microarray |  | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top