Evidence Details for CYP3A5
Basic Information Top
Gene Symbol: | CYP3A5 ( CP35,CYPIIIA5,DKFZp686L16231,FLJ31317,P450PCN3,PCN3 ) |
---|---|
Gene Full Name: | cytochrome P450, family 3, subfamily A, polypeptide 5 |
Band: | 7q22.1 |
Quick Links | Entrez ID:1577; OMIM: 605325; Uniprot ID:CP3A5_HUMAN; ENSEMBL ID: ENSG00000106258; HGNC ID: 2638 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CYP3A5|1577|nucleotide
ATGGACCTCATCCCAAATTTGGCGGTGGAAACCTGGCTTCTCCTGGCTGTCAGCCTGGTGCTCCTCTATCTATATGGGACCCGTACACATGGACTTTTTAAGAGA
CTGGGAATTCCAGGGCCCACACCTCTGCCTTTGTTGGGAAATGTTTTGTCCTATCGTCAGGGTCTCTGGAAATTTGACACAGAGTGCTATAAAAAGTATGGAAAA
ATGTGGGGAACGTATGAAGGTCAACTCCCTGTGCTGGCCATCACAGATCCCGACGTGATCAGAACAGTGCTAGTGAAAGAATGTTATTCTGTCTTCACAAATCGA
AGGTCTTTAGGCCCAGTGGGATTTATGAAAAGTGCCATCTCTTTAGCTGAGGATGAAGAATGGAAGAGAATACGGTCATTGCTGTCTCCAACCTTCACCAGCGGA
AAACTCAAGGAGATGTTCCCCATCATTGCCCAGTATGGAGATGTATTGGTGAGAAACTTGAGGCGGGAAGCAGAGAAAGGCAAGCCTGTCACCTTGAAAGACATC
TTTGGGGCCTACAGCATGGATGTGATTACTGGCACATCATTTGGAGTGAACATCGACTCTCTCAACAATCCACAAGACCCCTTTGTGGAGAGCACTAAGAAGTTC
CTAAAATTTGGTTTCTTAGATCCATTATTTCTCTCAATAATACTCTTTCCATTCCTTACCCCAGTTTTTGAAGCATTAAATGTCTCTCTGTTTCCAAAAGATACC
ATAAATTTTTTAAGTAAATCTGTAAACAGAATGAAGAAAAGTCGCCTCAACGACAAACAAAAGCACCGACTAGATTTCCTTCAGCTGATGATTGACTCCCAGAAT
TCGAAAGAAACTGAGTCCCACAAAGCTCTGTCTGATCTGGAGCTCGCAGCCCAGTCAATAATCTTCATTTTTGCTGGCTATGAAACCACCAGCAGTGTTCTTTCC
TTCACTTTATATGAACTGGCCACTCACCCTGATGTCCAGCAGAAACTGCAAAAGGAGATTGATGCAGTTTTGCCCAATAAGGCACCACCTACCTATGATGCCGTG
GTACAGATGGAGTACCTTGACATGGTGGTGAATGAAACACTCAGATTATTCCCAGTTGCTATTAGACTTGAGAGGACTTGCAAGAAAGATGTTGAAATCAATGGG
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ATGGACCTCATCCCAAATTTGGCGGTGGAAACCTGGCTTCTCCTGGCTGTCAGCCTGGTGCTCCTCTATCTATATGGGACCCGTACACATGGACTTTTTAAGAGA
CTGGGAATTCCAGGGCCCACACCTCTGCCTTTGTTGGGAAATGTTTTGTCCTATCGTCAGGGTCTCTGGAAATTTGACACAGAGTGCTATAAAAAGTATGGAAAA
ATGTGGGGAACGTATGAAGGTCAACTCCCTGTGCTGGCCATCACAGATCCCGACGTGATCAGAACAGTGCTAGTGAAAGAATGTTATTCTGTCTTCACAAATCGA
AGGTCTTTAGGCCCAGTGGGATTTATGAAAAGTGCCATCTCTTTAGCTGAGGATGAAGAATGGAAGAGAATACGGTCATTGCTGTCTCCAACCTTCACCAGCGGA
AAACTCAAGGAGATGTTCCCCATCATTGCCCAGTATGGAGATGTATTGGTGAGAAACTTGAGGCGGGAAGCAGAGAAAGGCAAGCCTGTCACCTTGAAAGACATC
TTTGGGGCCTACAGCATGGATGTGATTACTGGCACATCATTTGGAGTGAACATCGACTCTCTCAACAATCCACAAGACCCCTTTGTGGAGAGCACTAAGAAGTTC
CTAAAATTTGGTTTCTTAGATCCATTATTTCTCTCAATAATACTCTTTCCATTCCTTACCCCAGTTTTTGAAGCATTAAATGTCTCTCTGTTTCCAAAAGATACC
ATAAATTTTTTAAGTAAATCTGTAAACAGAATGAAGAAAAGTCGCCTCAACGACAAACAAAAGCACCGACTAGATTTCCTTCAGCTGATGATTGACTCCCAGAAT
TCGAAAGAAACTGAGTCCCACAAAGCTCTGTCTGATCTGGAGCTCGCAGCCCAGTCAATAATCTTCATTTTTGCTGGCTATGAAACCACCAGCAGTGTTCTTTCC
TTCACTTTATATGAACTGGCCACTCACCCTGATGTCCAGCAGAAACTGCAAAAGGAGATTGATGCAGTTTTGCCCAATAAGGCACCACCTACCTATGATGCCGTG
GTACAGATGGAGTACCTTGACATGGTGGTGAATGAAACACTCAGATTATTCCCAGTTGCTATTAGACTTGAGAGGACTTGCAAGAAAGATGTTGAAATCAATGGG
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>CYP3A5|1577|protein
MDLIPNLAVETWLLLAVSLVLLYLYGTRTHGLFKRLGIPGPTPLPLLGNVLSYRQGLWKFDTECYKKYGKMWGTYEGQLPVLAITDPDVIRTVLVKECYSVFTNR
RSLGPVGFMKSAISLAEDEEWKRIRSLLSPTFTSGKLKEMFPIIAQYGDVLVRNLRREAEKGKPVTLKDIFGAYSMDVITGTSFGVNIDSLNNPQDPFVESTKKF
LKFGFLDPLFLSIILFPFLTPVFEALNVSLFPKDTINFLSKSVNRMKKSRLNDKQKHRLDFLQLMIDSQNSKETESHKALSDLELAAQSIIFIFAGYETTSSVLS
FTLYELATHPDVQQKLQKEIDAVLPNKAPPTYDAVVQMEYLDMVVNETLRLFPVAIRLERTCKKDVEINGVFIPKGSMVVIPTYALHHDPKYWTEPEEFRPERFS
KKKDSIDPYIYTPFGTGPRNCIGMRFALMNMKLALIRVLQNFSFKPCKETQIPLKLDTQGLLQPEKPIVLKVDSRDGTLSGE
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MDLIPNLAVETWLLLAVSLVLLYLYGTRTHGLFKRLGIPGPTPLPLLGNVLSYRQGLWKFDTECYKKYGKMWGTYEGQLPVLAITDPDVIRTVLVKECYSVFTNR
RSLGPVGFMKSAISLAEDEEWKRIRSLLSPTFTSGKLKEMFPIIAQYGDVLVRNLRREAEKGKPVTLKDIFGAYSMDVITGTSFGVNIDSLNNPQDPFVESTKKF
LKFGFLDPLFLSIILFPFLTPVFEALNVSLFPKDTINFLSKSVNRMKKSRLNDKQKHRLDFLQLMIDSQNSKETESHKALSDLELAAQSIIFIFAGYETTSSVLS
FTLYELATHPDVQQKLQKEIDAVLPNKAPPTYDAVVQMEYLDMVVNETLRLFPVAIRLERTCKKDVEINGVFIPKGSMVVIPTYALHHDPKYWTEPEEFRPERFS
KKKDSIDPYIYTPFGTGPRNCIGMRFALMNMKLALIRVLQNFSFKPCKETQIPLKLDTQGLLQPEKPIVLKVDSRDGTLSGE
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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) | No | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 3 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Monaco, 2001 | - | microsatellite-based genomic screen | PDD | 152 | - | 152 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Purcell, 2001_2 | America | cerebellum | 9 (-) | - | autism | 4 (-) |
-1.4 | Down | - | |||
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS 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 |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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