Evidence Details for CERK
Basic Information Top
| Gene Symbol: | CERK ( DKFZp434E0211,FLJ21430,FLJ23239,KIAA1646,LK4,MGC131878,dA59H18.2,dA59H18.3,hCERK ) |
|---|---|
| Gene Full Name: | ceramide kinase |
| Band: | 22q13.31 |
| Quick Links | Entrez ID:64781; OMIM: 610307; Uniprot ID:CERK1_HUMAN; ENSEMBL ID: ENSG00000100422; HGNC ID: 19256 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CERK|64781|nucleotide
ATGGGGGCGACGGGGGCGGCGGAGCCGCTGCAATCCGTGCTGTGGGTGAAGCAGCAGCGCTGCGCCGTGAGCCTGGAGCCCGCGCGGGCTCTGCTGCGCTGGTGG
CGGAGCCCGGGGCCCGGAGCCGGCGCCCCCGGCGCGGATGCCTGCTCTGTGCCTGTATCTGAGATCATCGCCGTTGAGGAAACAGACGTTCACGGGAAACATCAA
GGCAGTGGAAAATGGCAGAAAATGGAAAAGCCTTACGCTTTTACAGTTCACTGTGTAAAGAGAGCACGACGGCACCGCTGGAAGTGGGCGCAGGTGACTTTCTGG
TGTCCAGAGGAGCAGCTGTGTCACTTGTGGCTGCAGACCCTGCGGGAGATGCTGGAGAAGCTGACGTCCAGACCAAAGCATTTACTGGTATTTATCAACCCGTTT
GGAGGAAAAGGACAAGGCAAGCGGATATATGAAAGAAAAGTGGCACCACTGTTCACCTTAGCCTCCATCACCACTGACATCATCGTTACTGAACATGCTAATCAG
GCCAAGGAGACTCTGTATGAGATTAACATAGACAAATACGACGGCATCGTCTGTGTCGGCGGAGATGGTATGTTCAGCGAGGTGCTGCACGGTCTGATTGGGAGG
ACGCAGAGGAGCGCCGGGGTCGACCAGAACCACCCCCGGGCTGTGCTGGTCCCCAGTAGCCTCCGGATTGGAATCATTCCCGCAGGGTCAACGGACTGCGTGTGT
TACTCCACCGTGGGCACCAGCGACGCAGAAACCTCGGCGCTGCATATCGTTGTTGGGGACTCGCTGGCCATGGATGTGTCCTCAGTCCACCACAACAGCACACTC
CTTCGCTACTCCGTGTCCCTGCTGGGCTACGGCTTCTACGGGGACATCATCAAGGACAGTGAGAAGAAACGGTGGTTGGGTCTTGCCAGATACGACTTTTCAGGT
TTAAAGACCTTCCTCTCCCACCACTGCTATGAAGGGACAGTGTCCTTCCTCCCTGCACAACACACGGTGGGATCTCCAAGGGATAGGAAGCCCTGCCGGGCAGGA
TGCTTTGTTTGCAGGCAAAGCAAGCAGCAGCTGGAGGAGGAGCAGAAGAAAGCACTGTATGGTTTGGAAGCTGCGGAGGACGTGGAGGAGTGGCAAGTCGTCTGT
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ATGGGGGCGACGGGGGCGGCGGAGCCGCTGCAATCCGTGCTGTGGGTGAAGCAGCAGCGCTGCGCCGTGAGCCTGGAGCCCGCGCGGGCTCTGCTGCGCTGGTGG
CGGAGCCCGGGGCCCGGAGCCGGCGCCCCCGGCGCGGATGCCTGCTCTGTGCCTGTATCTGAGATCATCGCCGTTGAGGAAACAGACGTTCACGGGAAACATCAA
GGCAGTGGAAAATGGCAGAAAATGGAAAAGCCTTACGCTTTTACAGTTCACTGTGTAAAGAGAGCACGACGGCACCGCTGGAAGTGGGCGCAGGTGACTTTCTGG
TGTCCAGAGGAGCAGCTGTGTCACTTGTGGCTGCAGACCCTGCGGGAGATGCTGGAGAAGCTGACGTCCAGACCAAAGCATTTACTGGTATTTATCAACCCGTTT
GGAGGAAAAGGACAAGGCAAGCGGATATATGAAAGAAAAGTGGCACCACTGTTCACCTTAGCCTCCATCACCACTGACATCATCGTTACTGAACATGCTAATCAG
GCCAAGGAGACTCTGTATGAGATTAACATAGACAAATACGACGGCATCGTCTGTGTCGGCGGAGATGGTATGTTCAGCGAGGTGCTGCACGGTCTGATTGGGAGG
ACGCAGAGGAGCGCCGGGGTCGACCAGAACCACCCCCGGGCTGTGCTGGTCCCCAGTAGCCTCCGGATTGGAATCATTCCCGCAGGGTCAACGGACTGCGTGTGT
TACTCCACCGTGGGCACCAGCGACGCAGAAACCTCGGCGCTGCATATCGTTGTTGGGGACTCGCTGGCCATGGATGTGTCCTCAGTCCACCACAACAGCACACTC
CTTCGCTACTCCGTGTCCCTGCTGGGCTACGGCTTCTACGGGGACATCATCAAGGACAGTGAGAAGAAACGGTGGTTGGGTCTTGCCAGATACGACTTTTCAGGT
TTAAAGACCTTCCTCTCCCACCACTGCTATGAAGGGACAGTGTCCTTCCTCCCTGCACAACACACGGTGGGATCTCCAAGGGATAGGAAGCCCTGCCGGGCAGGA
TGCTTTGTTTGCAGGCAAAGCAAGCAGCAGCTGGAGGAGGAGCAGAAGAAAGCACTGTATGGTTTGGAAGCTGCGGAGGACGTGGAGGAGTGGCAAGTCGTCTGT
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>CERK|64781|protein
MGATGAAEPLQSVLWVKQQRCAVSLEPARALLRWWRSPGPGAGAPGADACSVPVSEIIAVEETDVHGKHQGSGKWQKMEKPYAFTVHCVKRARRHRWKWAQVTFW
CPEEQLCHLWLQTLREMLEKLTSRPKHLLVFINPFGGKGQGKRIYERKVAPLFTLASITTDIIVTEHANQAKETLYEINIDKYDGIVCVGGDGMFSEVLHGLIGR
TQRSAGVDQNHPRAVLVPSSLRIGIIPAGSTDCVCYSTVGTSDAETSALHIVVGDSLAMDVSSVHHNSTLLRYSVSLLGYGFYGDIIKDSEKKRWLGLARYDFSG
LKTFLSHHCYEGTVSFLPAQHTVGSPRDRKPCRAGCFVCRQSKQQLEEEQKKALYGLEAAEDVEEWQVVCGKFLAINATNMSCACRRSPRGLSPAAHLGDGSSDL
ILIRKCSRFNFLRFLIRHTNQQDQFDFTFVEVYRVKKFQFTSKHMEDEDSDLKEGGKKRFGHICSSHPSCCCTVSNSSWNCDGEVLHSPAIEVRVHCQLVRLFAR
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MGATGAAEPLQSVLWVKQQRCAVSLEPARALLRWWRSPGPGAGAPGADACSVPVSEIIAVEETDVHGKHQGSGKWQKMEKPYAFTVHCVKRARRHRWKWAQVTFW
CPEEQLCHLWLQTLREMLEKLTSRPKHLLVFINPFGGKGQGKRIYERKVAPLFTLASITTDIIVTEHANQAKETLYEINIDKYDGIVCVGGDGMFSEVLHGLIGR
TQRSAGVDQNHPRAVLVPSSLRIGIIPAGSTDCVCYSTVGTSDAETSALHIVVGDSLAMDVSSVHHNSTLLRYSVSLLGYGFYGDIIKDSEKKRWLGLARYDFSG
LKTFLSHHCYEGTVSFLPAQHTVGSPRDRKPCRAGCFVCRQSKQQLEEEQKKALYGLEAAEDVEEWQVVCGKFLAINATNMSCACRRSPRGLSPAAHLGDGSSDL
ILIRKCSRFNFLRFLIRHTNQQDQFDFTFVEVYRVKKFQFTSKHMEDEDSDLKEGGKKRFGHICSSHPSCCCTVSNSSWNCDGEVLHSPAIEVRVHCQLVRLFAR
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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 (7) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (7) |
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 | ||||||
| Goizet, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Prasad, 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 |
| Bucan, 2009 | USA | SNP microarray | | | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
| Chen, 2011 | - | FISH, aCGH | - | - | autism | - | - | - | - | 1 | - | 1 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top