HsaINT1017146 @ hg38
Intron Retention
Gene
ENSG00000055118 | KCNH2
Description
potassium voltage-gated channel subfamily H member 2 [Source:HGNC Symbol;Acc:HGNC:6251]
Coordinates
chr7:150948856-150950420:-
Coord C1 exon
chr7:150950168-150950420
Coord A exon
chr7:150949050-150950167
Coord C2 exon
chr7:150948856-150949049
Length
1118 bp
Sequences
Splice sites
5' ss Seq
TGGGTATGG
5' ss Score
6.23
3' ss Seq
GTCCTCTCCATGGCCTCCAGGGA
3' ss Score
6.64
Exon sequences
Seq C1 exon
GTGCTGAAGGGCTTCCCTGAGTGCCTGCAGGCTGACATCTGCCTGCACCTGAACCGCTCACTGCTGCAGCACTGCAAACCCTTCCGAGGGGCCACCAAGGGCTGCCTTCGGGCCCTGGCCATGAAGTTCAAGACCACACATGCACCGCCAGGGGACACACTGGTGCATGCTGGGGACCTGCTCACCGCCCTGTACTTCATCTCCCGGGGCTCCATCGAGATCCTGCGGGGCGACGTCGTCGTGGCCATCCTGG
Seq A exon
GTATGGGGTGGGGGGCGGGCACTGGACTGGAAATGCCCTCTGCAGCCTCAAGAGGTGCGAGCCTTCTGAATATGCAGTCACTGGGGCTGTGGACCTGGGACTGCCTGCAGGGTCACTGGGCTCCTTTAATTCACCTAAACTCAGGCCCTCCAAGCGGGGCCATGGAGAGGAGCCCCACGTGGGGTGAGGCTGCTGAACTCTGGGGTTCCCACATTCTCCTTCCCTTCAGGATCCGCCACAAACAGACACTTTTTGCTTCCTTAAAGTAGGATCAAATCTAGATCCTCTAGCCTGGGCAGTAGAGGAAGAAATGCTAGCCTGGAAGCTCGGCATTTGGTTTCACTAAGGGCCATGTGGTTCCCTGCAGCCTCATGCCTGGCCCCTTGACACATCCAAAGCAAAGGGAGTCCTGCCCCCTCCCCCCACTTCCTTTCTACCCTGCCTGTGCACAGTGGGTGGGTTGGTGTGTCTGGACACTGAGGACTTCCTCCCCCTTTGCCTGTCCTTCCCTCGGCCCTGTGTGCCTCAGGGCAGATATAGCAAGCTCTTTCGACCATAGTTGATGGTAGGACATTTTAGACTTTGTTTCTCAGCTCTGTACAAACACAAATACACACCCCCACAAAACTAAAATCAAAGTTTCACTACATAACACTGGGCCTTACTGCATGTGGTTCATTCTAGCATTTCTGTTCTGTGCTGTGCTAAGCTATACTACTGTATGTTCTTTCAGTAAAAAAAAAAAAAAAAAAAAAAAAATGCTGGTTTTGATTCACTACTGTGTTCTGATCTTTGGTTTGAAGAACATTGCTTATAAGGGTGCAGTGATTGGCTAAGAGGGTGTTTGGGACCTGGGGTTTGGGGTAGTCCTGCTGGCTGGGTCTCATTTGCTGGGAGACCCTGGGCTCCTGGCCCCTCTGGCACTGTCGTGCCTGCTGGGAGCTGAGGGAGGGTGGGCTGGCAGATTGCTTCCCCGGTTGTGTGGGTTGGGGGCCGGCTGGCAGGCGACCCAGCTGAGGGGACATGCTCTGCCCGGGGTGGGGATGCCGGGAGAAGGTGCCTGCTGCCTGGATGCCGCCCCCCGGGGCTGAGCTCCCTGTCCTCTCCATGGCCTCCAG
Seq C2 exon
GGAAGAATGACATCTTTGGGGAGCCTCTGAACCTGTATGCAAGGCCTGGCAAGTCGAACGGGGATGTGCGGGCCCTCACCTACTGTGACCTACACAAGATCCATCGGGACGACCTGCTGGAGGTGCTGGACATGTACCCTGAGTTCTCCGACCACTTCTGGTCCAGCCTGGAGATCACCTTCAACCTGCGAGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000055118:ENST00000262186:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.003 A=NA C2=0.015
Domain overlap (PFAM):
C1:
PF0002724=cNMP_binding=PU(45.5=47.1)
A:
NA
C2:
PF0002724=cNMP_binding=PD(53.4=72.3)
Other Inclusion Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACATCTGCCTGCACCTGAAC
R:
GTACATGTCCAGCACCTCCAG
Band lengths:
357-1475
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains