AutismKB 2.0

Evidence Details for DCLK1


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Basic Information Top
Gene Symbol:DCLK1 ( CL1,CLICK1,DCAMKL1,DCDC3A,DCLK,KIAA0369 )
Gene Full Name: doublecortin-like kinase 1
Band: 13q13.3
Quick LinksEntrez ID:9201; OMIM: 604742; Uniprot ID:DCLK1_HUMAN; ENSEMBL ID: ENSG00000133083; HGNC ID: 2700
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DCLK1|9201|nucleotide
ATGTTAGAACTCATAGAAGTTAATGGAACCCCTGGTAGTCAGCTCTCTACTCCGCGCTCAGGCAAGTCGCCAAGCCCATCACCCACCAGCCCAGGAAGCCTGCGG
AAGCAGAGGAGCTCTCAGCATGGCGGCTCCTCTACGTCACTTGCGTCCACCAAAGTCTGCAGCTCGATGGATGAGAACGATGGCCCTGGAGAAGAAGTGTCGGAG
GAAGGCTTCCAGATTCCAGCTACAATAACAGAACGATATAAAGTCGGAAGAACAATAGGAGATGGAAATTTTGCTGTTGTCAAGGAATGTGTAGAAAGATCGACT
GCTAGAGAGTATGCTCTGAAAATTATCAAGAAAAGCAAATGTCGAGGCAAAGAGCACATGATCCAGAATGAAGTGTCTATTTTAAGAAGAGTGAAGCATCCCAAT
ATCGTTCTTCTGATTGAGGAGATGGATGTGCCAACTGAACTGTATCTTGTCATGGAATTAGTAAAGGGGGGAGACCTTTTTGATGCCATTACTTCCACTAACAAA
TACACCGAGAGAGACGCCAGTGGGATGCTGTACAACCTAGCCAGCGCCATCAAATACCTGCATAGCCTGAACATCGTCCACCGTGATATCAAGCCAGAGAACCTG
CTGGTGTATGAGCACCAAGATGGCAGCAAATCACTGAAGCTGGGTGACTTTGGACTGGCCACCATTGTAGACGGCCCCCTGTACACAGTCTGTGGCACCCCAACA
TACGTGGCTCCAGAAATCATTGCAGAGACTGGATACGGCCTCAAGGTGGACATCTGGGCAGCAGGTGTAATCACTTATATCCTGCTGTGTGGTTTCCCTCCATTC
CGTGGAAGTGGTGATGACCAGGAGGTGCTTTTTGATCAGATTTTGATGGGGCAGGTGGACTTTCCTTCTCCATACTGGGATAATGTTTCCGATTCTGCAAAGGAG
CTCATTACCATGATGCTGTTGGTCGATGTAGATCAGCGATTTTCTGCTGTTCAAGTACTTGAGCATCCCTGGGTTAATGATGATGGCCTCCCAGAAAATGAACAT
CAGCTGTCAGTAGCTGGAAAGATAAAGAAGCATTTCAACACAGGCCCCAAGCCGAATAGCACAGCAGCTGGAGTTTCTGTCATAGCACTGGACCACGGGTTTACC
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>DCLK1|9201|protein
MLELIEVNGTPGSQLSTPRSGKSPSPSPTSPGSLRKQRSSQHGGSSTSLASTKVCSSMDENDGPGEEVSEEGFQIPATITERYKVGRTIGDGNFAVVKECVERST
AREYALKIIKKSKCRGKEHMIQNEVSILRRVKHPNIVLLIEEMDVPTELYLVMELVKGGDLFDAITSTNKYTERDASGMLYNLASAIKYLHSLNIVHRDIKPENL
LVYEHQDGSKSLKLGDFGLATIVDGPLYTVCGTPTYVAPEIIAETGYGLKVDIWAAGVITYILLCGFPPFRGSGDDQEVLFDQILMGQVDFPSPYWDNVSDSAKE
LITMMLLVDVDQRFSAVQVLEHPWVNDDGLPENEHQLSVAGKIKKHFNTGPKPNSTAAGVSVIALDHGFTIKRSGSLDYYQQPGMYWIRPPLLIRRGRFSDEDAT
RM
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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) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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
Smith, 2002 - FISHautism - - - - 1 - 1
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.689963 Down 0.239001
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_2165354
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)
-autism 6
(0.00%)
0.833818 Down 0.199933
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_2165354
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018