AutismKB 2.0

Evidence Details for CADPS


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Basic Information Top
Gene Symbol:CADPS ( CADPS1,CAPS,CAPS1,KIAA1121 )
Gene Full Name: Ca++-dependent secretion activator
Band: 3p14.2
Quick LinksEntrez ID:8618; OMIM: 604667; Uniprot ID:CAPS1_HUMAN; ENSEMBL ID: ENSG00000163618; HGNC ID: 1426
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CADPS|8618|nucleotide
ATGCTGGACCCTTCGTCCAGCGAAGAAGAATCGGATGAGATCGTGGAGGAGGAGAGCGGCAAGGAGGTGCTCGGCTCGGCCCCGTCCGGCGCGCGCCTGTCTCCC
AGCCGTACCAGCGAGGGCTCGGCCGGCAGCGCCGGGCTGGGGGGCGGCGGCGCCGGCGCCGGAGCCGGGGTGGGTGCAGGCGGCGGCGGGGGCAGCGGCGCGAGC
AGCGGCGGCGGGGCCGGGGGGCTGCAACCCAGCAGCCGCGCTGGCGGCGGCCGGCCCTCCAGCCCCAGCCCGTCGGTGGTGAGCGAGAAGGAGAAGGAAGAGTTG
GAGCGGCTGCAGAAAGAGGAGGAGGAGAGGAAGAAGAGGCTGCAGCTGTATGTGTTCGTGATGCGCTGCATCGCCTACCCCTTTAATGCCAAGCAGCCCACCGAC
ATGGCTCGCCGGCAGCAGAAGATCAGCAAACAGCAGCTGCAGACAGTCAAGGACCGGTTTCAGGCTTTCCTCAATGGGGAAACCCAGATCATGGCTGACGAAGCC
TTCATGAACGCTGTGCAGAGTTACTATGAGGTGTTCCTGAAGAGCGACCGTGTGGCCCGCATGGTTCAGAGTGGAGGCTGTTCCGCCAACGACTCCCGGGAGGTC
TTCAAGAAGCACATTGAGAAGAGAGTGCGCAGCCTGCCTGAGATTGACGGCCTCAGCAAGGAGACTGTGCTGAGCTCCTGGATGGCCAAATTTGATGCCATCTAC
CGTGGAGAAGAGGACCCGCGGAAGCAGCAGGCCCGGATGACAGCCAGCGCAGCCTCCGAGCTGATTCTGAGCAAGGAGCAACTCTATGAGATGTTCCAGAACATT
CTTGGGATCAAGAAGTTCGAACATCAGCTCCTTTACAATGCCTGCCAGCTGGACAATCCAGATGAGCAAGCAGCCCAGATCAGACGAGAGCTGGATGGACGTCTA
CAAATGGCAGACCAAATAGCCAGGGAACGCAAATTTCCCAAGTTTGTATCCAAAGAAATGGAAAACATGTACATTGAGGAGCTGAAGTCATCTGTCAACCTGCTC
ATGGCCAACTTGGAGAGCATGCCGGTATCCAAAGGCGGGGAGTTCAAGCTCCAGAAACTCAAACGCAGCCACAATGCTTCCATCATCGACATGGGCGAGGAGAGT
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>CADPS|8618|protein
MLDPSSSEEESDEIVEEESGKEVLGSAPSGARLSPSRTSEGSAGSAGLGGGGAGAGAGVGAGGGGGSGASSGGGAGGLQPSSRAGGGRPSSPSPSVVSEKEKEEL
ERLQKEEEERKKRLQLYVFVMRCIAYPFNAKQPTDMARRQQKISKQQLQTVKDRFQAFLNGETQIMADEAFMNAVQSYYEVFLKSDRVARMVQSGGCSANDSREV
FKKHIEKRVRSLPEIDGLSKETVLSSWMAKFDAIYRGEEDPRKQQARMTASAASELILSKEQLYEMFQNILGIKKFEHQLLYNACQLDNPDEQAAQIRRELDGRL
QMADQIARERKFPKFVSKEMENMYIEELKSSVNLLMANLESMPVSKGGEFKLQKLKRSHNASIIDMGEESENQLSKSDVVLSFSLEVVIMEVQGLKSLAPNRIVY
CTMEVEGGEKLQTDQAEASKPTWGTQGDFSTTHALPAVKVKLFTESTGVLALEDKELGRVILHPTPNSPKQSEWHKMTVSKNCPDQDLKIKLAVRMDKPQNMKHS
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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 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (2) 0 (0) 0 (0) 0 (0) 1 (4)
Syndromic Autism Gene Top
Genome-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)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)		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 Top
Linkage Studies Top