Evidence Details for CYP4F3
Basic Information Top
Gene Symbol: | CYP4F3 ( CPF3,CYP4F,LTB4H ) |
---|---|
Gene Full Name: | cytochrome P450, family 4, subfamily F, polypeptide 3 |
Band: | 19p13.12 |
Quick Links | Entrez ID:4051; OMIM: 601270; Uniprot ID:CP4F3_HUMAN; ENSEMBL ID: ENSG00000186529; HGNC ID: 2646 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CYP4F3|4051|nucleotide
ATGCCACAGCTGAGCCTGTCCTCGCTGGGCCTTTGGCCAATGGCAGCATCCCCGTGGCTGCTCCTGCTGCTGGTTGGGGCCTCCTGGCTCCTGGCCCGCATCCTG
GCCTGGACCTATACCTTCTATGACAACTGCTGCCGCCTCCGGTGTTTCCCGCAACCCCCGAAACGGAATTGGTTCTTGGGTCACCTGGGCCTGATTCACAGCTCG
GAGGAAGGTCTCCTATACACACAAAGCCTGGCATGCACCTTCGGTGATATGTGCTGCTGGTGGGTGGGGCCCTGGCACGCAATCGTCCGCATCTTCCACCCCACC
TACATCAAGCCTGTGCTCTTTGCTCCAGCTGCCATTGTACCAAAGGACAAGGTCTTCTACAGCTTCCTGAAGCCCTGGCTGGGGGATGGGCTCCTGCTGAGTGCT
GGTGAAAAGTGGAGCCGCCACCGTCGGATGCTGACGCCTGCCTTCCATTTCAACATCCTGAAGCCCTATATGAAGATTTTCAATGAGAGTGTGAACATCATGCAT
GCCAAGTGGCAGCTCCTGGCCTCAGAGGGTAGTGCCCGTCTGGACATGTTTGAGCACATCAGCCTCATGACCTTGGACAGTCTGCAGAAATGTGTCTTCAGCTTT
GACAGCCATTGCCAGGAGAAGCCCAGTGAATATATTGCCGCCATCTTGGAGCTCAGTGCCCTTGTGACAAAAAGACACCAGCAGATCCTCCTGTACATAGACTTC
CTGTATTATCTCACCCCTGATGGGCAGCGTTTCCGCAGGGCCTGCCGCCTGGTGCACGACTTCACAGATGCCGTCATCCAGGAGCGGCGCCGCACCCTCCCTAGC
CAGGGTGTTGATGACTTCCTCCAAGCCAAGGCCAAATCCAAGACTTTGGACTTCATTGATGTACTCCTGCTGAGCAAGGATGAAGATGGGAAGAAGTTGTCCGAT
GAGGACATAAGAGCAGAAGCTGACACCTTTATGTTTGAGGGCCATGACACCACAGCCAGTGGTCTCTCCTGGGTCCTGTACCACCTTGCAAAGCACCCGGAATAC
CAGGAGCGCTGTCGGCAGGAGGTGCAAGAGCTTCTGAAGGACCGTGAGCCTAAAGAGATTGAATGGGACGACCTGGCCCAGCTGCCCTTCCTGACCATGTGCATT
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ATGCCACAGCTGAGCCTGTCCTCGCTGGGCCTTTGGCCAATGGCAGCATCCCCGTGGCTGCTCCTGCTGCTGGTTGGGGCCTCCTGGCTCCTGGCCCGCATCCTG
GCCTGGACCTATACCTTCTATGACAACTGCTGCCGCCTCCGGTGTTTCCCGCAACCCCCGAAACGGAATTGGTTCTTGGGTCACCTGGGCCTGATTCACAGCTCG
GAGGAAGGTCTCCTATACACACAAAGCCTGGCATGCACCTTCGGTGATATGTGCTGCTGGTGGGTGGGGCCCTGGCACGCAATCGTCCGCATCTTCCACCCCACC
TACATCAAGCCTGTGCTCTTTGCTCCAGCTGCCATTGTACCAAAGGACAAGGTCTTCTACAGCTTCCTGAAGCCCTGGCTGGGGGATGGGCTCCTGCTGAGTGCT
GGTGAAAAGTGGAGCCGCCACCGTCGGATGCTGACGCCTGCCTTCCATTTCAACATCCTGAAGCCCTATATGAAGATTTTCAATGAGAGTGTGAACATCATGCAT
GCCAAGTGGCAGCTCCTGGCCTCAGAGGGTAGTGCCCGTCTGGACATGTTTGAGCACATCAGCCTCATGACCTTGGACAGTCTGCAGAAATGTGTCTTCAGCTTT
GACAGCCATTGCCAGGAGAAGCCCAGTGAATATATTGCCGCCATCTTGGAGCTCAGTGCCCTTGTGACAAAAAGACACCAGCAGATCCTCCTGTACATAGACTTC
CTGTATTATCTCACCCCTGATGGGCAGCGTTTCCGCAGGGCCTGCCGCCTGGTGCACGACTTCACAGATGCCGTCATCCAGGAGCGGCGCCGCACCCTCCCTAGC
CAGGGTGTTGATGACTTCCTCCAAGCCAAGGCCAAATCCAAGACTTTGGACTTCATTGATGTACTCCTGCTGAGCAAGGATGAAGATGGGAAGAAGTTGTCCGAT
GAGGACATAAGAGCAGAAGCTGACACCTTTATGTTTGAGGGCCATGACACCACAGCCAGTGGTCTCTCCTGGGTCCTGTACCACCTTGCAAAGCACCCGGAATAC
CAGGAGCGCTGTCGGCAGGAGGTGCAAGAGCTTCTGAAGGACCGTGAGCCTAAAGAGATTGAATGGGACGACCTGGCCCAGCTGCCCTTCCTGACCATGTGCATT
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>CYP4F3|4051|protein
MPQLSLSSLGLWPMAASPWLLLLLVGASWLLARILAWTYTFYDNCCRLRCFPQPPKRNWFLGHLGLIHSSEEGLLYTQSLACTFGDMCCWWVGPWHAIVRIFHPT
YIKPVLFAPAAIVPKDKVFYSFLKPWLGDGLLLSAGEKWSRHRRMLTPAFHFNILKPYMKIFNESVNIMHAKWQLLASEGSARLDMFEHISLMTLDSLQKCVFSF
DSHCQEKPSEYIAAILELSALVTKRHQQILLYIDFLYYLTPDGQRFRRACRLVHDFTDAVIQERRRTLPSQGVDDFLQAKAKSKTLDFIDVLLLSKDEDGKKLSD
EDIRAEADTFMFEGHDTTASGLSWVLYHLAKHPEYQERCRQEVQELLKDREPKEIEWDDLAQLPFLTMCIKESLRLHPPVPAVSRCCTQDIVLPDGRVIPKGIIC
LISVFGTHHNPAVWPDPEVYDPFRFDPKNIKERSPLAFIPFSAGPRNCIGQAFAMAEMKVVLGLTLLRFRVLPDHTEPRRKPELVLRAEGGLWLRVEPLS
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MPQLSLSSLGLWPMAASPWLLLLLVGASWLLARILAWTYTFYDNCCRLRCFPQPPKRNWFLGHLGLIHSSEEGLLYTQSLACTFGDMCCWWVGPWHAIVRIFHPT
YIKPVLFAPAAIVPKDKVFYSFLKPWLGDGLLLSAGEKWSRHRRMLTPAFHFNILKPYMKIFNESVNIMHAKWQLLASEGSARLDMFEHISLMTLDSLQKCVFSF
DSHCQEKPSEYIAAILELSALVTKRHQQILLYIDFLYYLTPDGQRFRRACRLVHDFTDAVIQERRRTLPSQGVDDFLQAKAKSKTLDFIDVLLLSKDEDGKKLSD
EDIRAEADTFMFEGHDTTASGLSWVLYHLAKHPEYQERCRQEVQELLKDREPKEIEWDDLAQLPFLTMCIKESLRLHPPVPAVSRCCTQDIVLPDGRVIPKGIIC
LISVFGTHHNPAVWPDPEVYDPFRFDPKNIKERSPLAFIPFSAGPRNCIGQAFAMAEMKVVLGLTLLRFRVLPDHTEPRRKPELVLRAEGGLWLRVEPLS
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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 (1) | 1 (2) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 12 (4) |
Syndromic Autism Gene Top
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 | ||||||
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Philippe, 1999 | Sweden, France, Norway, Italy, Austria, Belgium, U | microsatellite-based genomic screen | autism | 51 | - | 51 | - | - | - | - | ||
Buxbaum, 2004 | USA | microsatellite-based genomic screen | autism | 115 | - | 115 | - | - | - | - |
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 |
---|---|---|---|---|
Sanders SJ, 2012 | - | 238 | 172 | De novo mutations revealed by whole-exome sequencing are strongly associated with autism. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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