HsaINT0084369 @ hg19
Intron Retention
Gene
ENSG00000173826 | KCNH6
Description
potassium voltage-gated channel, subfamily H (eag-related), member 6 [Source:HGNC Symbol;Acc:18862]
Coordinates
chr17:61619602-61621021:+
Coord C1 exon
chr17:61619602-61619795
Coord A exon
chr17:61619796-61620936
Coord C2 exon
chr17:61620937-61621021
Length
1141 bp
Sequences
Splice sites
5' ss Seq
GACGTGAGT
5' ss Score
9.22
3' ss Seq
ACCCTCTTGCTTCCCATAAGGCA
3' ss Score
5.34
Exon sequences
Seq C1 exon
GAAAGAATGACATCTTTGGGGAACCCGTCAGCCTCCATGCCCAGCCAGGCAAGTCCAGTGCAGACGTGCGGGCTCTGACCTACTGCGACCTGCACAAGATCCAGCGGGCAGATCTGCTGGAGGTGCTGGACATGTACCCGGCCTTTGCGGAGAGCTTCTGGAGTAAGCTGGAGGTCACCTTCAACCTGCGGGAC
Seq A exon
GTGAGTCAGGGCCAGGTGGGCCAGGGTGGGTGGAAATGCCCAGGCAGCCTGCCTGGCCTGAGGGCACCCATCTGACCAACACCCTTCCTTTCAACCCCATCCTGCAACCTTTGCCATAATTTCTTTTGTGCCTACCATGGCTGGCGTCATGCTAAGTATGAGGATAGCTACTATTTATTAAGCAGTAGGGTGCTAAGGGTGGGGCTTCTTTTACATGATCTTCTTGCAAATGGTATTATTATCCCCAATTTTCAGATGAGGAAACTGAGGATTAGAGACAATAAATAAATTGGCCAAAGCCATTCAGCTAGTCAACGGCAGAGCCAAAATGTGAATTTAATTTGTCTGACTCCAAAGCCCAGGCATTCCTACTACATCATACCAAGCTGAAAAAGGGGGTGCCTTCTGTCCAGAGGGCTCACAGTGCCAGACACAGGGGCTGCCAAGAGGTGACAAAGCTGTCTCTTCTCATGCTCATCCCTCAGTAGAGGAGATTTTGACAACTCAAGAAAAATAAAGAGCCACAAAGTAAAACAGCCAAAGTCACGAAGGTATAAAGGAGAAGCCATGTGGAGCTCAAGCTTGCTAAGGAGTGGGACAGCCAGGACCGACCTGGGAATGCCCAGAGCGGGGTATCACGGAGGAGGAAACTAATGGGAAGAAGGGAGTGTGCATCTGGCAGGGAAACACAGAGCCCGGGCTATTTCTTCCCTGGTGCCCCGCCCCTCCACCTTGGGGGAGGGCCCTGCTGGCGTAGGCCCTGTGCCCAGCTTCCTGAGCATAGAGCTGGGTGGGCTTTCTGGCTGTGGACAGCCCTCCCCACACCATCCCCTCTCCCCCTCCTCAGTTTCTCCCCTCCCTCCCGCGATCTGCACAGGAGACTGACAGGTTAGGACTCTGCCCTCGGCCCCCAGCCATCAGGTGGCCAGAATGCCCAGCAGCTGGGCACCAGGACAGGAGGGGTGTGGTCTCTGCAGCCTGGGCCACCTGCAGGAAGTCGTCCAGGGCATCGCTGCTGTGCCCAGCTGCTTGTCATTCTTTCACCTAGTTGTGACAGCACCATGGGGTCAGGGCAGGGAAGAACAAAGAGGCCCCATCCCAGCTTTGGTTCCTGTTATTTCACCCTCTTGCTTCCCATAAG
Seq C2 exon
GCAGCCGGGGGTCTCCACTCATCCCCCCGACAGGCTCCTGGCAGCCAAGACCACCAAGGTTTCTTTCTCAGTGACAACCAGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000173826-KCNH6:NM_030779:9
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.845
Domain overlap (PFAM):
C1:
PF0002724=cNMP_binding=PD(53.4=72.3)
A:
NA
C2:
NO
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:
AAGAATGACATCTTTGGGGAACC
R:
TGGTTGTCACTGAGAAAGAAACCT
Band lengths:
272-1413
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)