Evidence Details for CYP27C1
Basic Information Top
Gene Symbol: | CYP27C1 ( FLJ16008 ) |
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Gene Full Name: | cytochrome P450, family 27, subfamily C, polypeptide 1 |
Band: | 2q14.3 |
Quick Links | Entrez ID:339761; OMIM: NA; Uniprot ID:C27C1_HUMAN; ENSEMBL ID: ENSG00000186684; HGNC ID: 33480 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CYP27C1|339761|nucleotide
ATGAGAAGCGTATTGAGACAAAGAATTCTGAAACCGAAAGATGTGGCCATTTATTCTGGAGAAGTCAACCAAGTTATTGCTGACTTAATTAAAAGAATCTACCTC
CTCAGGAGCCAGGCAGAAGATGGAGAAACCGTGACCAATGTCAATGATCTTTTCTTCAAATATTCAATGGAAGGAGTGGCCACCATCCTTTATGAGAGTCGTTTG
GGCTGCCTGGAAAACAGCATCCCACAGCTGACTGTGGAATACATCGAGGCCCTGGAGCTCATGTTTAGCATGTTCAAGACCTCCATGTATGCAGGCGCCATCCCC
AGATGGCTTCGCCCCTTCATCCCAAAGCCCTGGCGGGAATTCTGCAGGTCCTGGGATGGACTCTTCAAATTCAGCCAAATTCATGTTGACAACAAGTTGAGGGAC
ATACAGTACCAAATGGACCGAGGCCGGAGGGTGAGCGGGGGACTTCTCACATACCTCTTCCTTAGCCAGGCTCTGACGCTGCAGGAGATCTACGCCAACGTGACT
GAGATGCTGCTGGCCGGCGTCGACACGACGTCCTTCACCTTGTCTTGGACTGTGTACCTCCTGGCAAGGCACCCAGAAGTGCAGCAGACGGTGTACCGGGAGATT
GTGAAGAATTTAGGGGAAAGGCATGTTCCAACTGCAGCTGATGTCCCCAAGGTCCCGCTGGTCAGAGCTCTCCTTAAGGAAACCCTGAGGCTGTTTCCAGTGCTG
CCAGGGAACGGCCGGGTCACCCAGGAAGACCTGGTTATTGGCGGGTATCTGATTCCGAAAGGCACCCAGCTGGCCCTTTGCCACTATGCCACATCGTACCAGGAT
GAGAACTTCCCTCGGGCCAAGGAGTTCCGGCCTGAGCGCTGGCTGCGGAAAGGAGACTTAGATAGAGTTGACAATTTTGGATCCATCCCCTTTGGTCATGGGGTT
CGCAGCTGCATAGGGCGGAGAATTGCAGAACTGGAGATTCACCTCGTCGTGATCCAGTTGCTTCAACATTTTGAGATCAAAACATCTTCTCAGACCAATGCTGTT
CATGCAAAAACCCACGGGCTCCTGACGCCAGGGGGGCCCATCCACGTGCGATTTGTTAACAGAAAGTAA
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ATGAGAAGCGTATTGAGACAAAGAATTCTGAAACCGAAAGATGTGGCCATTTATTCTGGAGAAGTCAACCAAGTTATTGCTGACTTAATTAAAAGAATCTACCTC
CTCAGGAGCCAGGCAGAAGATGGAGAAACCGTGACCAATGTCAATGATCTTTTCTTCAAATATTCAATGGAAGGAGTGGCCACCATCCTTTATGAGAGTCGTTTG
GGCTGCCTGGAAAACAGCATCCCACAGCTGACTGTGGAATACATCGAGGCCCTGGAGCTCATGTTTAGCATGTTCAAGACCTCCATGTATGCAGGCGCCATCCCC
AGATGGCTTCGCCCCTTCATCCCAAAGCCCTGGCGGGAATTCTGCAGGTCCTGGGATGGACTCTTCAAATTCAGCCAAATTCATGTTGACAACAAGTTGAGGGAC
ATACAGTACCAAATGGACCGAGGCCGGAGGGTGAGCGGGGGACTTCTCACATACCTCTTCCTTAGCCAGGCTCTGACGCTGCAGGAGATCTACGCCAACGTGACT
GAGATGCTGCTGGCCGGCGTCGACACGACGTCCTTCACCTTGTCTTGGACTGTGTACCTCCTGGCAAGGCACCCAGAAGTGCAGCAGACGGTGTACCGGGAGATT
GTGAAGAATTTAGGGGAAAGGCATGTTCCAACTGCAGCTGATGTCCCCAAGGTCCCGCTGGTCAGAGCTCTCCTTAAGGAAACCCTGAGGCTGTTTCCAGTGCTG
CCAGGGAACGGCCGGGTCACCCAGGAAGACCTGGTTATTGGCGGGTATCTGATTCCGAAAGGCACCCAGCTGGCCCTTTGCCACTATGCCACATCGTACCAGGAT
GAGAACTTCCCTCGGGCCAAGGAGTTCCGGCCTGAGCGCTGGCTGCGGAAAGGAGACTTAGATAGAGTTGACAATTTTGGATCCATCCCCTTTGGTCATGGGGTT
CGCAGCTGCATAGGGCGGAGAATTGCAGAACTGGAGATTCACCTCGTCGTGATCCAGTTGCTTCAACATTTTGAGATCAAAACATCTTCTCAGACCAATGCTGTT
CATGCAAAAACCCACGGGCTCCTGACGCCAGGGGGGCCCATCCACGTGCGATTTGTTAACAGAAAGTAA
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>CYP27C1|339761|protein
MRSVLRQRILKPKDVAIYSGEVNQVIADLIKRIYLLRSQAEDGETVTNVNDLFFKYSMEGVATILYESRLGCLENSIPQLTVEYIEALELMFSMFKTSMYAGAIP
RWLRPFIPKPWREFCRSWDGLFKFSQIHVDNKLRDIQYQMDRGRRVSGGLLTYLFLSQALTLQEIYANVTEMLLAGVDTTSFTLSWTVYLLARHPEVQQTVYREI
VKNLGERHVPTAADVPKVPLVRALLKETLRLFPVLPGNGRVTQEDLVIGGYLIPKGTQLALCHYATSYQDENFPRAKEFRPERWLRKGDLDRVDNFGSIPFGHGV
RSCIGRRIAELEIHLVVIQLLQHFEIKTSSQTNAVHAKTHGLLTPGGPIHVRFVNRK
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MRSVLRQRILKPKDVAIYSGEVNQVIADLIKRIYLLRSQAEDGETVTNVNDLFFKYSMEGVATILYESRLGCLENSIPQLTVEYIEALELMFSMFKTSMYAGAIP
RWLRPFIPKPWREFCRSWDGLFKFSQIHVDNKLRDIQYQMDRGRRVSGGLLTYLFLSQALTLQEIYANVTEMLLAGVDTTSFTLSWTVYLLARHPEVQQTVYREI
VKNLGERHVPTAADVPKVPLVRALLKETLRLFPVLPGNGRVTQEDLVIGGYLIPKGTQLALCHYATSYQDENFPRAKEFRPERWLRKGDLDRVDNFGSIPFGHGV
RSCIGRRIAELEIHLVVIQLLQHFEIKTSSQTNAVHAKTHGLLTPGGPIHVRFVNRK
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Evidence summary Top
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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 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS 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 Top
NGS Other Studies Top
Low Scale Gene Studies Top
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