AutismKB 2.0

Evidence Details for DSPP


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Basic Information Top
Gene Symbol:DSPP ( DFNA39,DGI1,DMP3,DPP,DSP,DTDP2 )
Gene Full Name: dentin sialophosphoprotein
Band: 4q22.1
Quick LinksEntrez ID:1834; OMIM: 125485; Uniprot ID:DSPP_HUMAN; ENSEMBL ID: ENSG00000152591; HGNC ID: 3054
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DSPP|1834|nucleotide
ATGAAGATAATTACATATTTTTGCATTTGGGCAGTAGCATGGGCCATTCCAGTTCCTCAAAGCAAACCACTGGAGAGACATGTCGAAAAATCCATGAATTTGCAT
CTCCTAGCAAGATCAAATGTGTCAGTACAGGATGAGTTAAATGCCAGTGGAACCATCAAAGAAAGTGGTGTCCTGGTGCATGAAGGTGATAGAGGAAGGCAAGAG
AATACCCAAGATGGTCACAAGGGAGAAGGGAATGGCTCTAAGTGGGCAGAAGTAGGAGGGAAGAGTTTTTCTACATATTCCACATTAGCAAACGAAGAGGGGAAT
ATTGAGGGCTGGAATGGGGACACAGGAAAAGCAGAAACATATGGTCATGATGGAATACATGGGAAAGAAGAAAACATCACAGCAAATGGCATCCAGGGACAAGTA
AGCATCATTGACAATGCTGGAGCCACAAACAGAAGCAACACTAATGGAAATACTGATAAGAATACCCAAAATGGGGATGTTGGCGATGCAGGTCACAATGAGGAT
GTCGCTGTTGTCCAAGAAGATGGACCTCAAGTAGCTGGAAGCAATAACAGTACAGACAATGAGGATGAAATAATTGAGAATTCCTGTAGAAACGAGGGTAATACA
AGTGAAATAACACCTCAGATCAACAGCAAGAGAAATGGGACTAAGGAAGCTGAGGTAACACCAGGCACTGGAGAAGATGCTGGCCTGGATAATTCCGATGGGAGT
CCTAGTGGGAATGGAGCAGATGAGGATGAAGACGAGGGTTCTGGTGATGATGAAGATGAAGAAGCAGGGAATGGAAAAGACAGTAGTAATAACAGCAAGGGCCAG
GAGGGCCAGGACCATGGGAAAGAAGATGATCATGATAGTAGCATAGGTCAAAATTCAGATAGTAAAGAATATTATGACCCTGAAGGCAAAGAAGATCCCCATAAT
GAAGTTGATGGAGACAAGACCTCCAAGAGTGAGGAGAATTCTGCTGGTATTCCAGAAGACAATGGCAGCCAAAGAATAGAGGACACCCAGAAGCTCAACCATAGA
GAAAGCAAACGCGTAGAAAATAGAATCACCAAAGAATCAGAGACACATGCTGTTGGGAAGAGCCAAGATAAGGGAATAGAAATCAAGGGTCCCAGCAGTGGCAAC
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>DSPP|1834|protein
MKIITYFCIWAVAWAIPVPQSKPLERHVEKSMNLHLLARSNVSVQDELNASGTIKESGVLVHEGDRGRQENTQDGHKGEGNGSKWAEVGGKSFSTYSTLANEEGN
IEGWNGDTGKAETYGHDGIHGKEENITANGIQGQVSIIDNAGATNRSNTNGNTDKNTQNGDVGDAGHNEDVAVVQEDGPQVAGSNNSTDNEDEIIENSCRNEGNT
SEITPQINSKRNGTKEAEVTPGTGEDAGLDNSDGSPSGNGADEDEDEGSGDDEDEEAGNGKDSSNNSKGQEGQDHGKEDDHDSSIGQNSDSKEYYDPEGKEDPHN
EVDGDKTSKSEENSAGIPEDNGSQRIEDTQKLNHRESKRVENRITKESETHAVGKSQDKGIEIKGPSSGNRNITKEVGKGNEGKEDKGQHGMILGKGNVKTQGEV
VNIEGPGQKSEPGNKVGHSNTGSDSNSDGYDSYDFDDKSMQGDDPNSSDESNGNDDANSESDNNSSSRGDASYNSDESKDNGNGSDSKGAEDDDSDSTSDTNNSD
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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top