Evidence Details for CPT1B
Basic Information Top
| Gene Symbol: | CPT1B ( CPT1-M,CPT1M,CPTI,CPTI-M,FLJ55729,FLJ58750,KIAA1670,M-CPT1,MCCPT1,MCPT1 ) |
|---|---|
| Gene Full Name: | carnitine palmitoyltransferase 1B (muscle) |
| Band: | 22q13.33 |
| Quick Links | Entrez ID:1375; OMIM: 601987; Uniprot ID:CPT1B_HUMAN; ENSEMBL ID: ENSG00000205560; HGNC ID: 2329 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CPT1B|1375|nucleotide
ATGGCGGAAGCTCACCAGGCCGTGGCCTTCCAGTTCACGGTGACCCCAGACGGGGTCGACTTCCGGCTCAGTCGGGAGGCCCTGAAACACGTCTACCTGTCTGGG
ATCAACTCCTGGAAGAAACGCCTGATCCGCATCAAGAATGGCATCCTCAGGGGCGTGTACCCTGGCAGCCCCACCAGCTGGCTGGTCGTCATCATGGCAACAGTG
GGTTCCTCCTTCTGCAACGTGGACATCTCCTTGGGGCTGGTCAGTTGCATCCAGAGATGCCTCCCTCAGGGGTGTGGCCCCTACCAGACCCCGCAGACCCGGGCA
CTTCTCAGCATGGCCATCTTCTCCACGGGCGTCTGGGTGACGGGCATCTTCTTCTTCCGCCAAACCCTGAAGCTGCTTCTCTGCTACCATGGGTGGATGTTTGAG
ATGCATGGCAAGACCAGCAACTTGACCAGGATCTGGGCTTACCTAGAGTCTGTGCGCCCCTTGTTGGATGATGAGGAATATTACCGCATGGAGTTGCTGGCCAAA
GAATTCCAGGACAAGACTGCCCCCAGGCTGCAGAAATACCTGGTGCTCAAGTCATGGTGGGCAAGTAACTATGTGAGTGACTGGTGGGAAGAGTACATCTACCTT
CGAGGCAGGAGCCCTCTCATGGTGAACAGCAACTATTATGTCATGGACCTTGTGCTCATCAAGAATACAGACGTGCAGGCAGCCCGCCTGGGAAACATCATCCAC
GCCATGATCATGTATCGCCGTAAACTGGACCGTGAAGAAATCAAGCCTGTGATGGCACTGGGCATAGTGCCTATGTGCTCCTACCAGATGGAGAGGATGTTCAAC
ACCACTCGGATCCCGGGCAAGGACACAGATGTGCTACAGCACCTCTCAGACAGCCGGCACGTGGCTGTCTACCACAAGGGACGCTTCTTCAAGCTGTGGCTCTAT
GAGGGCGCCCGTCTGCTCAAGCCTCAGGATCTGGAGATGCAGTTCCAGAGGATCCTGGACGACCCCTCCCCACCTCAGCCTGGGGAGGAGAAGCTGGCAGCCCTC
ACTGCAGGAGGAAGGGTGGAGTGGGCGCAGGCACGCCAGGCCTTCTTTAGCTCTGGAAAGAATAAGGCTGCCTTGGAGGCCATCGAGCGTGCCGCTTTCTTCGTG
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ATGGCGGAAGCTCACCAGGCCGTGGCCTTCCAGTTCACGGTGACCCCAGACGGGGTCGACTTCCGGCTCAGTCGGGAGGCCCTGAAACACGTCTACCTGTCTGGG
ATCAACTCCTGGAAGAAACGCCTGATCCGCATCAAGAATGGCATCCTCAGGGGCGTGTACCCTGGCAGCCCCACCAGCTGGCTGGTCGTCATCATGGCAACAGTG
GGTTCCTCCTTCTGCAACGTGGACATCTCCTTGGGGCTGGTCAGTTGCATCCAGAGATGCCTCCCTCAGGGGTGTGGCCCCTACCAGACCCCGCAGACCCGGGCA
CTTCTCAGCATGGCCATCTTCTCCACGGGCGTCTGGGTGACGGGCATCTTCTTCTTCCGCCAAACCCTGAAGCTGCTTCTCTGCTACCATGGGTGGATGTTTGAG
ATGCATGGCAAGACCAGCAACTTGACCAGGATCTGGGCTTACCTAGAGTCTGTGCGCCCCTTGTTGGATGATGAGGAATATTACCGCATGGAGTTGCTGGCCAAA
GAATTCCAGGACAAGACTGCCCCCAGGCTGCAGAAATACCTGGTGCTCAAGTCATGGTGGGCAAGTAACTATGTGAGTGACTGGTGGGAAGAGTACATCTACCTT
CGAGGCAGGAGCCCTCTCATGGTGAACAGCAACTATTATGTCATGGACCTTGTGCTCATCAAGAATACAGACGTGCAGGCAGCCCGCCTGGGAAACATCATCCAC
GCCATGATCATGTATCGCCGTAAACTGGACCGTGAAGAAATCAAGCCTGTGATGGCACTGGGCATAGTGCCTATGTGCTCCTACCAGATGGAGAGGATGTTCAAC
ACCACTCGGATCCCGGGCAAGGACACAGATGTGCTACAGCACCTCTCAGACAGCCGGCACGTGGCTGTCTACCACAAGGGACGCTTCTTCAAGCTGTGGCTCTAT
GAGGGCGCCCGTCTGCTCAAGCCTCAGGATCTGGAGATGCAGTTCCAGAGGATCCTGGACGACCCCTCCCCACCTCAGCCTGGGGAGGAGAAGCTGGCAGCCCTC
ACTGCAGGAGGAAGGGTGGAGTGGGCGCAGGCACGCCAGGCCTTCTTTAGCTCTGGAAAGAATAAGGCTGCCTTGGAGGCCATCGAGCGTGCCGCTTTCTTCGTG
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>CPT1B|1375|protein
MAEAHQAVAFQFTVTPDGVDFRLSREALKHVYLSGINSWKKRLIRIKNGILRGVYPGSPTSWLVVIMATVGSSFCNVDISLGLVSCIQRCLPQGCGPYQTPQTRA
LLSMAIFSTGVWVTGIFFFRQTLKLLLCYHGWMFEMHGKTSNLTRIWAYLESVRPLLDDEEYYRMELLAKEFQDKTAPRLQKYLVLKSWWASNYVSDWWEEYIYL
RGRSPLMVNSNYYVMDLVLIKNTDVQAARLGNIIHAMIMYRRKLDREEIKPVMALGIVPMCSYQMERMFNTTRIPGKDTDVLQHLSDSRHVAVYHKGRFFKLWLY
EGARLLKPQDLEMQFQRILDDPSPPQPGEEKLAALTAGGRVEWAQARQAFFSSGKNKAALEAIERAAFFVALDEESYSYDPEDEASLSLYGKALLHGNCYNRWFD
KSFTLISFKNGQLGLNAEHAWADAPIIGHLWEFVLGTDSFHLGYTETGHCLGKPNPALAPPTRLQWDIPKQCQAVIESSYQVAKALADDVELYCFQFLPFGKGLI
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MAEAHQAVAFQFTVTPDGVDFRLSREALKHVYLSGINSWKKRLIRIKNGILRGVYPGSPTSWLVVIMATVGSSFCNVDISLGLVSCIQRCLPQGCGPYQTPQTRA
LLSMAIFSTGVWVTGIFFFRQTLKLLLCYHGWMFEMHGKTSNLTRIWAYLESVRPLLDDEEYYRMELLAKEFQDKTAPRLQKYLVLKSWWASNYVSDWWEEYIYL
RGRSPLMVNSNYYVMDLVLIKNTDVQAARLGNIIHAMIMYRRKLDREEIKPVMALGIVPMCSYQMERMFNTTRIPGKDTDVLQHLSDSRHVAVYHKGRFFKLWLY
EGARLLKPQDLEMQFQRILDDPSPPQPGEEKLAALTAGGRVEWAQARQAFFSSGKNKAALEAIERAAFFVALDEESYSYDPEDEASLSLYGKALLHGNCYNRWFD
KSFTLISFKNGQLGLNAEHAWADAPIIGHLWEFVLGTDSFHLGYTETGHCLGKPNPALAPPTRLQWDIPKQCQAVIESSYQVAKALADDVELYCFQFLPFGKGLI
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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) | 2 (8) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 4 (10) |
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 | ||||||
| Prasad, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Goizet, 2000 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Sebat, 2007 | USA | aCGH |  | | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Zwaag, 2009 | - | SNP microarray | | | autism | - | - | - | - | 105 | 267 | 372 |
| Chen, 2011 | - | FISH, aCGH | - | - | autism | - | - | - | - | 1 | - | 1 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top