AutismKB 2.0

Evidence Details for HIPK2


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Basic Information Top
Gene Symbol:HIPK2 ( DKFZp686K02111,FLJ23711,PRO0593 )
Gene Full Name: homeodomain interacting protein kinase 2
Band: 7q34
Quick LinksEntrez ID:28996; OMIM: 606868; Uniprot ID:HIPK2_HUMAN; ENSEMBL ID: ENSG00000064393; HGNC ID: 14402
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HIPK2|28996|nucleotide
ATGGCCCCCGTGTACGAAGGTATGGCCTCACATGTGCAAGTTTTCTCCCCTCACACCCTTCAATCAAGTGCCTTCTGTAGTGTGAAGAAACTGAAAATAGAGCCG
AGTTCCAACTGGGACATGACTGGGTACGGCTCCCACAGCAAAGTGTATAGCCAGAGCAAGAACATCCCCCTGTCGCAGCCAGCCACCACAACCGTCAGCACCTCC
TTGCCGGTCCCAAACCCAAGCCTACCTTACGAGCAGACCATCGTCTTCCCAGGAAGCACCGGGCACATCGTGGTCACCTCAGCAAGCAGCACTTCTGTCACCGGG
CAAGTCCTCGGCGGACCACACAACCTAATGCGTCGAAGCACTGTGAGCCTCCTTGATACCTACCAAAAATGTGGACTCAAGCGTAAGAGCGAGGAGATCGAGAAC
ACAAGCAGCGTGCAGATCATCGAGGAGCATCCACCCATGATTCAGAATAATGCAAGCGGGGCCACTGTCGCCACTGCCACCACGTCTACTGCCACCTCCAAAAAC
AGCGGCTCCAACAGCGAGGGCGACTATCAGCTGGTGCAGCATGAGGTGCTGTGCTCCATGACCAACACCTACGAGGTCTTAGAGTTCTTGGGCCGAGGGACGTTT
GGGCAAGTGGTCAAGTGCTGGAAACGGGGCACCAATGAGATCGTAGCCATCAAGATCCTGAAGAACCACCCATCCTATGCCCGACAAGGTCAGATTGAAGTGAGC
ATCCTGGCCCGGTTGAGCACGGAGAGTGCCGATGACTATAACTTCGTCCGGGCCTACGAATGCTTCCAGCACAAGAACCACACGTGCTTGGTCTTCGAGATGTTG
GAGCAGAACCTCTATGACTTTCTGAAGCAAAACAAGTTTAGCCCCTTGCCCCTCAAATACATTCGCCCAGTTCTCCAGCAGGTAGCCACAGCCCTGATGAAACTC
AAAAGCCTAGGTCTTATCCACGCTGACCTCAAACCAGAAAACATCATGCTGGTGGATCCATCTAGACAACCATACAGAGTCAAGGTCATCGACTTTGGTTCAGCC
AGCCACGTCTCCAAGGCTGTGTGCTCCACCTACTTGCAGTCCAGATATTACAGGGCCCCTGAGATCATCCTTGGTTTACCATTTTGTGAGGCAATTGACATGTGG
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>HIPK2|28996|protein
MAPVYEGMASHVQVFSPHTLQSSAFCSVKKLKIEPSSNWDMTGYGSHSKVYSQSKNIPLSQPATTTVSTSLPVPNPSLPYEQTIVFPGSTGHIVVTSASSTSVTG
QVLGGPHNLMRRSTVSLLDTYQKCGLKRKSEEIENTSSVQIIEEHPPMIQNNASGATVATATTSTATSKNSGSNSEGDYQLVQHEVLCSMTNTYEVLEFLGRGTF
GQVVKCWKRGTNEIVAIKILKNHPSYARQGQIEVSILARLSTESADDYNFVRAYECFQHKNHTCLVFEMLEQNLYDFLKQNKFSPLPLKYIRPVLQQVATALMKL
KSLGLIHADLKPENIMLVDPSRQPYRVKVIDFGSASHVSKAVCSTYLQSRYYRAPEIILGLPFCEAIDMWSLGCVIAELFLGWPLYPGASEYDQIRYISQTQGLP
AEYLLSAGTKTTRFFNRDTDSPYPLWRLKTPDDHEAETGIKSKEARKYIFNCLDDMAQVNMTTDLEGSDMLVEKADRREFIDLLKKMLTIDADKRITPIETLNHP
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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) 1 (1) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 4 (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