HsaINT0084372 @ hg19
Intron Retention
Gene
ENSG00000184611 | KCNH7
Description
potassium voltage-gated channel, subfamily H (eag-related), member 7 [Source:HGNC Symbol;Acc:18863]
Coordinates
chr2:163693047-163695240:-
Coord C1 exon
chr2:163694953-163695240
Coord A exon
chr2:163693278-163694952
Coord C2 exon
chr2:163693047-163693277
Length
1675 bp
Sequences
Splice sites
5' ss Seq
AAAGTAAGT
5' ss Score
9.72
3' ss Seq
ATACTGTCTTCTTATTACAGATA
3' ss Score
9.08
Exon sequences
Seq C1 exon
GGCCCCCTCCGGAAGGTGAGGGGAATGGATTGGACTCCGGTGGGGAAAGCGGGTGTCTAGAAGTGGTGCTAATGGGAAGAGAATTCTGGTTTCAAAAGAGGATGCTCTGCCACAAAGAGCGGCTCGCGCGCTGGCCTGGGCTCTAGCCGAGGAGAGATCCCGGGAGAACTCCAGAGCTCCGGGGGAGCGCTCCTCGGAAGACCGGGGCCAACATGCCTGTGCGCAGGGGGCATGTGGCACCACAAAATACATTTCTGGGGACCATCATTCGGAAATTTGAAGGGCAAA
Seq A exon
GTAAGTTCGTTTGTTCTCTTCTCTCGCCCTCGCTTTCTGCCTTGTTAGTGCACTTGGCGTCCACCGCTTCCAAGGTGGGGAGACCGGCAACTCCAGGCTCTGTCAACTTAAGAGGCTGTGAAACCGAGCCAGGAGGTTCGAATGGCAGCGGGAGTGTTCTTCTGATATTAATTTTGATTTACATTTTAGATTACGGTCTCCATTATAGGAGGCAATTTGATCCTCCTCTACCACTGCTCCATTATCTGCCTTGCTACTTAATTTCCTACTATTCTACTATCTTAAAGGGAACGTGCTAGGATAACATGGGTTTATATTTTGAGGCTGTTTTACTGTAGACTTTCTGAAAGTCGGAAGCAGAGCAGACCATACTATTCGAACAAGAGAATGTAAATGGTAGTAGCGATGTAAATGACTATGCAAACTATATTTTACCTTGGTTAAACTGCAAAGCAGTGGTATGACACGGATGCTTGCTTGCTATTAATTTATAGAAGCTAAATTTTGTATTGAATCAATGCAAATATATCCTAAGCAGGGTAATTTGGAAAAGCAGTATCTCATCTGTGCTGGTTCCCGATGCAAATGGCTCATTATTCAAAATAATATTTCTATTCTTTTATTATCCCCTTAAAATTTCCATCTAGAAATTTAAAAATTGAAGTGTAATAAGTAAATCCCACAAAGACTGAATGCACAGAAATTTAATGTTCTCATGTGGACTAAATATAGGGAATAAATTGTTGCTATATAAATATATTAATTTAAAATCCTGTATTTGTTAACTTATCTTCGGTCTTTTCTTAAAACTATATTAATACATTTGTATGCCATATATTTTGCGGTTATTTCAGCACTGCATTTAGTGATGTGAGGATCTGGTACCTTGCGTACAAACTAAACTTGTATATCCTGCTTCACAATCTATGTGGAAATAGTAAATACAATCTGTGATGTAAATTAATAAGCTCTTTATATTAAGAATTCCTGCTACTACAGAAAACTTCAAGGATCTCCCAAAGTAAAAGTAAAAAGGTTGTCATGATATTTACTGTGTGTGTGTAAATATTTTTCTTTTGGGAAATATATATTATGAAAATGTGAATCTTTGCCTTGTTGAATTGCTATTAAATATGAAGTAGTTTCATTACTAAAGCTAGTTGCCTTTGTTTTTAACATGATGTGTGTAACATGCCTAAGAGAGATAGGGAGAAGCCAAAGAATAATAACTACTTTGAGAAAGTTGTATTCAAAGGGCCAAGGTTGAAATGAGAAATCTGACAACTACAGAATGTTTCACTGTTTGACTTTGAAAATATTTACATTACAATTAAATGACATTCTGAAAATATCAATGGGCAGCTGCTTGTCTGAGTGTCCACTAGGAACCCCCGCAGTTGCAGGGCTTGAGAACTAGTCTATTTGGGAAATTCTATTCTTGCAATTTTAAGAGTGGTTTCTTAATACTTTCTGTTAAAATTACTTAGGATCATTAATCTCACATTTAAAGTTTGTGGGGTTTCTTGTGTTTTCTTTTTTCATAAGGGCTGGAGAGATTAGTAATTTGGGGAGGCACCTGCATTTCAGAGCTCTTATTATGCAACAAATTGCTTCAGTGTTACGGAGAATATTGTGGAAGCTTTTTCAAAGATGCCATACTGTCTTCTTATTACAG
Seq C2 exon
ATAAAAAATTTATCATTGCAAATGCCAGAGTGCAGAACTGTGCCATCATTTATTGCAACGATGGGTTCTGTGAGATGACTGGTTTCTCCAGGCCAGATGTCATGCAAAAGCCATGCACCTGCGACTTTCTCCATGGACCCGAGACCAAGAGGCATGATATTGCCCAAATTGCCCAGGCATTGCTGGGGTCAGAAGAGAGGAAAGTGGAGGTCACCTACTATCACAAAAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000184611-KCNH7:NM_033272:1
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.115 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF134261=PAS_9=PU(70.1=96.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGGAGAGATCCCGGGAGAAC
R:
TTCCTCTCTTCTGACCCCAGC
Band lengths:
342-2017
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)