General information of RDP00433
Gene Symbol:HIPK1
RefSeq ID:NM_152696
Repeat coordinate:chr1:113929713-113929731 (+)
Repeat size:6
Repeat region:intron
Repeat unit:CGG
Repeat conservation:PhastCons_score: 0.999; Repeat Conservation from UCSC Genome Browser
Amino acid sequence:-
Gene expression and GO annotation: BioGPS
Protein expression:Human Protein Altas
Gene conservation:Gene Conservation from UCSC Genome Browser
Mapping repeat track to DisGeNET:
Disease_nameRefSeqScoreNofPmidsNofSnpsSource
Gastrointestinal Stromal SarcomaNM_1526960.3010CTD_human
Mapping repeat track to gnomAD:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
113929711
rs774270345
AGGC
A,AGGCGGCGGCGGC,AGGCGGC,AGGCGGCGGC
37249.20
Mapping repeat track to Kaviar:
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
1
113929697
.
AGCGCGCGGGGCTGAGGCGGC
AGAGCGCGGGGCTGAGGCGGC
.
1
113929729
.
C
CG
.