AutismKB 2.0

Evidence Details for DDR2


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Basic Information Top
Gene Symbol:DDR2 ( MIG20a,NTRKR3,TKT,TYRO10 )
Gene Full Name: discoidin domain receptor tyrosine kinase 2
Band: 1q23.3
Quick LinksEntrez ID:4921; OMIM: 191311; Uniprot ID:DDR2_HUMAN; ENSEMBL ID: ENSG00000162733; HGNC ID: 2731
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DDR2|4921|nucleotide
ATGATCCTGATTCCCAGAATGCTCTTGGTGCTGTTCCTGCTGCTGCCTATCTTGAGTTCTGCAAAAGCTCAGGTTAATCCAGCTATATGCCGCTATCCTCTGGGC
ATGTCAGGAGGCCAGATTCCAGATGAGGACATCACAGCTTCCAGTCAGTGGTCAGAGTCCACAGCTGCCAAATATGGAAGGCTGGACTCAGAAGAAGGGGATGGA
GCCTGGTGCCCTGAGATTCCAGTGGAACCTGATGACCTGAAGGAGTTTCTGCAGATTGACTTGCACACCCTCCATTTTATCACTCTGGTGGGGACCCAGGGGCGC
CATGCAGGAGGTCATGGCATCGAGTTTGCCCCCATGTACAAGATCAATTACAGTCGGGATGGCACTCGCTGGATCTCTTGGCGGAACCGTCATGGGAAACAGGTG
CTGGATGGAAATAGTAACCCCTATGACATTTTCCTAAAGGACTTGGAGCCGCCCATTGTAGCCAGATTTGTCCGGTTCATTCCAGTCACCGACCACTCCATGAAT
GTGTGTATGAGAGTGGAGCTTTACGGCTGTGTCTGGCTAGATGGCTTGGTGTCTTACAATGCTCCAGCTGGGCAGCAGTTTGTACTCCCTGGAGGTTCCATCATT
TATCTGAATGATTCTGTCTATGATGGAGCTGTTGGATACAGCATGACAGAAGGGCTAGGCCAATTGACCGATGGTGTGTCTGGCCTGGACGATTTCACCCAGACC
CATGAATACCACGTGTGGCCCGGCTATGACTATGTGGGCTGGCGGAACGAGAGTGCCACCAATGGCTACATTGAGATCATGTTTGAATTTGACCGCATCAGGAAT
TTCACTACCATGAAGGTCCACTGCAACAACATGTTTGCTAAAGGTGTGAAGATCTTTAAGGAGGTACAGTGCTACTTCCGCTCTGAAGCCAGTGAGTGGGAACCT
AATGCCATTTCCTTCCCCCTTGTCCTGGATGACGTCAACCCCAGTGCTCGGTTTGTCACGGTGCCTCTCCACCACCGAATGGCCAGTGCCATCAAGTGTCAATAC
CATTTTGCAGATACCTGGATGATGTTCAGTGAGATCACCTTCCAATCAGATGCTGCAATGTACAACAACTCTGAAGCCCTGCCCACCTCTCCTATGGCACCCACA
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>DDR2|4921|protein
MILIPRMLLVLFLLLPILSSAKAQVNPAICRYPLGMSGGQIPDEDITASSQWSESTAAKYGRLDSEEGDGAWCPEIPVEPDDLKEFLQIDLHTLHFITLVGTQGR
HAGGHGIEFAPMYKINYSRDGTRWISWRNRHGKQVLDGNSNPYDIFLKDLEPPIVARFVRFIPVTDHSMNVCMRVELYGCVWLDGLVSYNAPAGQQFVLPGGSII
YLNDSVYDGAVGYSMTEGLGQLTDGVSGLDDFTQTHEYHVWPGYDYVGWRNESATNGYIEIMFEFDRIRNFTTMKVHCNNMFAKGVKIFKEVQCYFRSEASEWEP
NAISFPLVLDDVNPSARFVTVPLHHRMASAIKCQYHFADTWMMFSEITFQSDAAMYNNSEALPTSPMAPTTYDPMLKVDDSNTRILIGCLVAIIFILLAIIVIIL
WRQFWQKMLEKASRRMLDDEMTVSLSLPSDSSMFNNNRSSSPSEQGSNSTYDRIFPLRPDYQEPSRLIRKLPEFAPGEEESGCSGVVKPVQPSGPEGVPHYAEAD
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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 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 2 (6)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Monica, 2007 - aCGHautism - - - - 1 - 1
Linkage Studies Top