Evidence Details for CROT
Basic Information Top
Gene Symbol: | CROT ( COT ) |
---|---|
Gene Full Name: | carnitine O-octanoyltransferase |
Band: | 7q21.12 |
Quick Links | Entrez ID:54677; OMIM: 606090; Uniprot ID:OCTC_HUMAN; ENSEMBL ID: ENSG00000005469; HGNC ID: 2366 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>CROT|54677|nucleotide
ATGGAAAATCAATTGGCTAAATCAACTGAAGAACGAACATTTCAGTACCAGGATTCTCTTCCATCACTGCCTGTTCCTTCACTTGAAGAATCATTAAAAAAATAC
CTTGAATCAGTCACCAGAACATGCTACCAGATAAGGGGTCTTGATCCAGATGCTAAGAGAGGGTTCTTGGATCTCACGCGGGAAGGAATTCAAGTGAAACCATTT
GCAAATCAAGAAGAATATAAGAAAACTGAAGAAATAGTTCAAAAATTTCAAAGTGGGATTGGAGAAAAATTGCACCAGAAATTGCTTGAAAGAGCAAAAGGAAAA
AGAAATTGGCTGGAAGAGTGGTGGCTGAATGTTGCCTATCTGGATGTTCGTATACCATCACAATTGAATGTCAACTTTGCGGGTCCTGCAGCTCATTTTGAACAC
TACTGGCCTCCAAAGGAAGGGACTCAATTAGAAAGAGGAAGTATAACTCTTTGGCATAACTTGAACTACTGGCAGCTATTAAGAAAAGAAAAAGTGCCTGTTCAT
AAAGTTGGAAATACTCCTCTAGATATGAATCAATTCCGAATGCTATTTTCTACCTGCAAGGTTCCAGGAATTACTAGAGACTCCATTATGAATTATTTTAGGACT
GAGAGTGAAGGGCGTTCCCCAAACCACATTGTAGTGCTGTGTCGAGGCCGAGCTTTTGTCTTTGATGTAATACATGAAGGATGTTTGGTCACCCCGCCAGAGCTT
CTCAGACAACTGACATATATCCACAAGAAGTGCCATAGTGAACCTGATGGACCTGGGATTGCAGCATTAACTAGTGAGGAGCGAACTCGATGGGCTAAGGCACGA
GAATATCTGATTGGTCTTGATCCAGAGAACTTGGCTTTGTTAGAAAAAATTCAGAGTAGTTTACTGGTATATTCCATGGAGGATAGCAGTCCACATGTAACACCA
GAGGATTATTCTGAGATTATTGCAGCCATCCTTATTGGAGATCCAACAGTACGCTGGGGTGACAAATCCTATAACTTGATTTCCTTTTCTAATGGAGTATTTGGC
TGTAATTGTGATCATGCTCCTTTTGATGCAATGATTATGGTGAACATCAGTTATTATGTGGATGAGAAAATTTTTCAGAATGAAGGAAGATGGAAGGGTTCAGAG
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ATGGAAAATCAATTGGCTAAATCAACTGAAGAACGAACATTTCAGTACCAGGATTCTCTTCCATCACTGCCTGTTCCTTCACTTGAAGAATCATTAAAAAAATAC
CTTGAATCAGTCACCAGAACATGCTACCAGATAAGGGGTCTTGATCCAGATGCTAAGAGAGGGTTCTTGGATCTCACGCGGGAAGGAATTCAAGTGAAACCATTT
GCAAATCAAGAAGAATATAAGAAAACTGAAGAAATAGTTCAAAAATTTCAAAGTGGGATTGGAGAAAAATTGCACCAGAAATTGCTTGAAAGAGCAAAAGGAAAA
AGAAATTGGCTGGAAGAGTGGTGGCTGAATGTTGCCTATCTGGATGTTCGTATACCATCACAATTGAATGTCAACTTTGCGGGTCCTGCAGCTCATTTTGAACAC
TACTGGCCTCCAAAGGAAGGGACTCAATTAGAAAGAGGAAGTATAACTCTTTGGCATAACTTGAACTACTGGCAGCTATTAAGAAAAGAAAAAGTGCCTGTTCAT
AAAGTTGGAAATACTCCTCTAGATATGAATCAATTCCGAATGCTATTTTCTACCTGCAAGGTTCCAGGAATTACTAGAGACTCCATTATGAATTATTTTAGGACT
GAGAGTGAAGGGCGTTCCCCAAACCACATTGTAGTGCTGTGTCGAGGCCGAGCTTTTGTCTTTGATGTAATACATGAAGGATGTTTGGTCACCCCGCCAGAGCTT
CTCAGACAACTGACATATATCCACAAGAAGTGCCATAGTGAACCTGATGGACCTGGGATTGCAGCATTAACTAGTGAGGAGCGAACTCGATGGGCTAAGGCACGA
GAATATCTGATTGGTCTTGATCCAGAGAACTTGGCTTTGTTAGAAAAAATTCAGAGTAGTTTACTGGTATATTCCATGGAGGATAGCAGTCCACATGTAACACCA
GAGGATTATTCTGAGATTATTGCAGCCATCCTTATTGGAGATCCAACAGTACGCTGGGGTGACAAATCCTATAACTTGATTTCCTTTTCTAATGGAGTATTTGGC
TGTAATTGTGATCATGCTCCTTTTGATGCAATGATTATGGTGAACATCAGTTATTATGTGGATGAGAAAATTTTTCAGAATGAAGGAAGATGGAAGGGTTCAGAG
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>CROT|54677|protein
MENQLAKSTEERTFQYQDSLPSLPVPSLEESLKKYLESVTRTCYQIRGLDPDAKRGFLDLTREGIQVKPFANQEEYKKTEEIVQKFQSGIGEKLHQKLLERAKGK
RNWLEEWWLNVAYLDVRIPSQLNVNFAGPAAHFEHYWPPKEGTQLERGSITLWHNLNYWQLLRKEKVPVHKVGNTPLDMNQFRMLFSTCKVPGITRDSIMNYFRT
ESEGRSPNHIVVLCRGRAFVFDVIHEGCLVTPPELLRQLTYIHKKCHSEPDGPGIAALTSEERTRWAKAREYLIGLDPENLALLEKIQSSLLVYSMEDSSPHVTP
EDYSEIIAAILIGDPTVRWGDKSYNLISFSNGVFGCNCDHAPFDAMIMVNISYYVDEKIFQNEGRWKGSEKVRDIPLPEELIFIVDEKVLNDINQAKAQYLREAS
DLQIAAYAFTSFGKKLTKNKMLHPDTFIQLALQLAYYRLHGHPGCCYETAMTRHFYHGRTETMRSCTVEAVRWCQSMQDPSVNLRERQQKMLQAFAKHNKMMKDC
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MENQLAKSTEERTFQYQDSLPSLPVPSLEESLKKYLESVTRTCYQIRGLDPDAKRGFLDLTREGIQVKPFANQEEYKKTEEIVQKFQSGIGEKLHQKLLERAKGK
RNWLEEWWLNVAYLDVRIPSQLNVNFAGPAAHFEHYWPPKEGTQLERGSITLWHNLNYWQLLRKEKVPVHKVGNTPLDMNQFRMLFSTCKVPGITRDSIMNYFRT
ESEGRSPNHIVVLCRGRAFVFDVIHEGCLVTPPELLRQLTYIHKKCHSEPDGPGIAALTSEERTRWAKAREYLIGLDPENLALLEKIQSSLLVYSMEDSSPHVTP
EDYSEIIAAILIGDPTVRWGDKSYNLISFSNGVFGCNCDHAPFDAMIMVNISYYVDEKIFQNEGRWKGSEKVRDIPLPEELIFIVDEKVLNDINQAKAQYLREAS
DLQIAAYAFTSFGKKLTKNKMLHPDTFIQLALQLAYYRLHGHPGCCYETAMTRHFYHGRTETMRSCTVEAVRWCQSMQDPSVNLRERQQKMLQAFAKHNKMMKDC
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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 |
---|---|---|---|---|
C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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