Evidence Details for CDKAL1
Basic Information Top
| Gene Symbol: | CDKAL1 ( FLJ20342,FLJ46705,MGC75469 ) |
|---|---|
| Gene Full Name: | CDK5 regulatory subunit associated protein 1-like 1 |
| Band: | 6p22.3 |
| Quick Links | Entrez ID:54901; OMIM: 611259; Uniprot ID:CDKAL_HUMAN; ENSEMBL ID: ENSG00000145996; HGNC ID: 21050 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CDKAL1|54901|nucleotide
ATGCCTTCTGCATCCTGTGATACACTACTGGATGACATCGAAGATATCGTGTCTCAGGAAGATTCAAAACCACAAGATAGGCATTTTGTAAGAAAGGATGTTGTC
CCGAAGGTACGAAGGCGAAATACCCAAAAATATTTGCAAGAGGAAGAAAACAGTCCACCAAGTGACAGCACTATTCCAGGCATACAGAAAATTTGGATACGAACA
TGGGGTTGTTCTCATAATAATTCAGATGGAGAATATATGGCTGGACAGCTAGCTGCTTATGGCTATAAAATTACAGAAAATGCATCCGATGCAGATTTATGGCTC
CTGAACAGTTGCACTGTAAAAAACCCAGCTGAAGACCACTTTAGAAACTCAATTAAAAAAGCTCAAGAGGAGAACAAGAAAATCGTACTGGCTGGATGCGTTCCT
CAAGCCCAGCCTCGCCAGGACTACCTTAAGGGACTGAGTATCATTGGGGTTCAGCAGATAGATCGTGTGGTAGAAGTTGTGGAGGAGACAATTAAAGGTCACTCT
GTGAGACTGCTGGGTCAGAAAAAGGATAATGGAAGGCGGCTTGGGGGAGCACGATTGGATTTGCCGAAGATTAGGAAGAATCCACTGATAGAAATCATTTCCATC
AATACCGGGTGTCTCAATGCTTGTACCTACTGCAAAACTAAACACGCCAGAGGAAATTTGGCCAGTTATCCAATTGATGAACTAGTAGATAGAGCCAAACAATCT
TTTCAAGAGGGTGTTTGTGAGATATGGTTGACCAGTGAAGACACGGGGGCTTATGGCAGAGATATTGGCACCAATCTCCCCACACTCCTGTGGAAACTGGTTGAA
GTGATTCCTGAGGGAGCAATGCTGAGGCTTGGCATGACAAATCCGCCCTATATTTTAGAGCATCTGGAGGAAATGGCAAAAATCCTTAATCACCCCAGAGTCTAC
GCTTTTCTGCACATACCAGTCCAGTCTGCCTCCGACAGCGTACTCATGGAAATGAAAAGAGAATACTGTGTGGCTGACTTCAAAAGAGTAGTGGATTTTCTGAAA
GAGAAAGTTCCTGGAATAACTATTGCTACAGATATTATCTGTGGTTTTCCTGGAGAAACAGATCAGGATTTTCAAGAAACAGTGAAACTTGTTGAAGAGTACAAA
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ATGCCTTCTGCATCCTGTGATACACTACTGGATGACATCGAAGATATCGTGTCTCAGGAAGATTCAAAACCACAAGATAGGCATTTTGTAAGAAAGGATGTTGTC
CCGAAGGTACGAAGGCGAAATACCCAAAAATATTTGCAAGAGGAAGAAAACAGTCCACCAAGTGACAGCACTATTCCAGGCATACAGAAAATTTGGATACGAACA
TGGGGTTGTTCTCATAATAATTCAGATGGAGAATATATGGCTGGACAGCTAGCTGCTTATGGCTATAAAATTACAGAAAATGCATCCGATGCAGATTTATGGCTC
CTGAACAGTTGCACTGTAAAAAACCCAGCTGAAGACCACTTTAGAAACTCAATTAAAAAAGCTCAAGAGGAGAACAAGAAAATCGTACTGGCTGGATGCGTTCCT
CAAGCCCAGCCTCGCCAGGACTACCTTAAGGGACTGAGTATCATTGGGGTTCAGCAGATAGATCGTGTGGTAGAAGTTGTGGAGGAGACAATTAAAGGTCACTCT
GTGAGACTGCTGGGTCAGAAAAAGGATAATGGAAGGCGGCTTGGGGGAGCACGATTGGATTTGCCGAAGATTAGGAAGAATCCACTGATAGAAATCATTTCCATC
AATACCGGGTGTCTCAATGCTTGTACCTACTGCAAAACTAAACACGCCAGAGGAAATTTGGCCAGTTATCCAATTGATGAACTAGTAGATAGAGCCAAACAATCT
TTTCAAGAGGGTGTTTGTGAGATATGGTTGACCAGTGAAGACACGGGGGCTTATGGCAGAGATATTGGCACCAATCTCCCCACACTCCTGTGGAAACTGGTTGAA
GTGATTCCTGAGGGAGCAATGCTGAGGCTTGGCATGACAAATCCGCCCTATATTTTAGAGCATCTGGAGGAAATGGCAAAAATCCTTAATCACCCCAGAGTCTAC
GCTTTTCTGCACATACCAGTCCAGTCTGCCTCCGACAGCGTACTCATGGAAATGAAAAGAGAATACTGTGTGGCTGACTTCAAAAGAGTAGTGGATTTTCTGAAA
GAGAAAGTTCCTGGAATAACTATTGCTACAGATATTATCTGTGGTTTTCCTGGAGAAACAGATCAGGATTTTCAAGAAACAGTGAAACTTGTTGAAGAGTACAAA
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>CDKAL1|54901|protein
MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTIPGIQKIWIRTWGCSHNNSDGEYMAGQLAAYGYKITENASDADLWL
LNSCTVKNPAEDHFRNSIKKAQEENKKIVLAGCVPQAQPRQDYLKGLSIIGVQQIDRVVEVVEETIKGHSVRLLGQKKDNGRRLGGARLDLPKIRKNPLIEIISI
NTGCLNACTYCKTKHARGNLASYPIDELVDRAKQSFQEGVCEIWLTSEDTGAYGRDIGTNLPTLLWKLVEVIPEGAMLRLGMTNPPYILEHLEEMAKILNHPRVY
AFLHIPVQSASDSVLMEMKREYCVADFKRVVDFLKEKVPGITIATDIICGFPGETDQDFQETVKLVEEYKFPSLFINQFYPRPGTPAAKMEQVPAQVKKQRTKDL
SRVFHSYSPYDHKIGERQQVLVTEESFDSKFYVAHNQFYEQVLVPKNPAFMGKMVEVDIYESGKHFMKGQPVSDAKVYTPSISKPLAKGEVSGLTKDFRNGLGNQ
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MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTIPGIQKIWIRTWGCSHNNSDGEYMAGQLAAYGYKITENASDADLWL
LNSCTVKNPAEDHFRNSIKKAQEENKKIVLAGCVPQAQPRQDYLKGLSIIGVQQIDRVVEVVEETIKGHSVRLLGQKKDNGRRLGGARLDLPKIRKNPLIEIISI
NTGCLNACTYCKTKHARGNLASYPIDELVDRAKQSFQEGVCEIWLTSEDTGAYGRDIGTNLPTLLWKLVEVIPEGAMLRLGMTNPPYILEHLEEMAKILNHPRVY
AFLHIPVQSASDSVLMEMKREYCVADFKRVVDFLKEKVPGITIATDIICGFPGETDQDFQETVKLVEEYKFPSLFINQFYPRPGTPAAKMEQVPAQVKKQRTKDL
SRVFHSYSPYDHKIGERQQVLVTEESFDSKFYVAHNQFYEQVLVPKNPAFMGKMVEVDIYESGKHFMKGQPVSDAKVYTPSISKPLAKGEVSGLTKDFRNGLGNQ
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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 | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 4 (2) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| MIXED/OTHERS | |||||||||||
| Anney R, 2012_1 | - | Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray | 1301 | - (-) |  | | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | |  | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.