AutismKB 2.0

Evidence Details for NCALD


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Basic Information Top
Gene Symbol:NCALD ( MGC33870,MGC74858 )
Gene Full Name: neurocalcin delta
Band: 8q22.3
Quick LinksEntrez ID:83988; OMIM: 606722; Uniprot ID:NCALD_HUMAN; ENSEMBL ID: ENSG00000104490; HGNC ID: 7655
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NCALD|83988|nucleotide
ATGGGGAAACAGAACAGCAAGCTGCGCCCGGAGGTCATGCAGGACTTGCTGGAAAGCACAGACTTTACAGAGCATGAGATCCAGGAATGGTATAAAGGCTTCTTG
AGAGACTGCCCCAGTGGACATTTGTCAATGGAAGAGTTTAAGAAAATATATGGGAACTTTTTCCCTTATGGGGATGCTTCCAAATTTGCAGAGCATGTCTTCCGC
ACCTTCGATGCAAATGGAGATGGGACAATAGACTTTAGAGAATTCATCATCGCCTTGAGTGTAACTTCGAGGGGGAAGCTGGAGCAGAAGCTGAAATGGGCCTTC
AGCATGTACGACCTGGACGGAAATGGCTATATCAGCAAGGCAGAGATGCTAGAGATCGTGCAGGCAATCTATAAGATGGTTTCCTCTGTAATGAAAATGCCTGAA
GATGAGTCAACCCCAGAGAAAAGAACAGAAAAGATCTTCCGCCAGATGGACACCAATAGAGACGGAAAACTCTCCCTGGAAGAGTTCATCCGAGGAGCCAAAAGC
GACCCGTCCATTGTGCGCCTCCTGCAGTGCGACCCGAGCAGTGCCGGCCAGTTCTGA





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>NCALD|83988|protein
MGKQNSKLRPEVMQDLLESTDFTEHEIQEWYKGFLRDCPSGHLSMEEFKKIYGNFFPYGDASKFAEHVFRTFDANGDGTIDFREFIIALSVTSRGKLEQKLKWAF
SMYDLDGNGYISKAEMLEIVQAIYKMVSSVMKMPEDESTPEKRTEKIFRQMDTNRDGKLSLEEFIRGAKSDPSIVRLLQCDPSSAGQF



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Evidence summary Top

Click 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) 0 (1) 0 (0) 0 (0) 3 (4) 0 (0) 0 (0) 0 (0) 0 (0) 3 (5)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 4
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Gregg, 2008_1 mixed lymphoblastoid cell lines 35
(14.29%)
autismautism 12
(25.00%)
1.54 Up 0.0131
  • Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA)
  • ProbeSet: 211685_s_at
  • RefSeq_ID/ EST: AF251061
  • GEO_ID: GSE6575
  • Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini
Gregg, 2008_2 mixed lymphoblastoid cell lines 17
(11.76%)
autism with early onset autism 12
(25.00%)
1.715 Up 0.0182
  • Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA)
  • ProbeSet: 211685_s_at
  • RefSeq_ID/ EST: AF251061
  • GEO_ID: GSE6575
  • Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.700549 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1788538
  • 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_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.768492 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_2343097
  • 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%)
0.795768 Down 0.0443237
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_1788538
  • 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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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