HsaINT0084369 @ hg38
Intron Retention
Gene
ENSG00000173826 | KCNH6
Description
potassium voltage-gated channel subfamily H member 6 [Source:HGNC Symbol;Acc:HGNC:18862]
Coordinates
chr17:63542241-63543660:+
Coord C1 exon
chr17:63542241-63542434
Coord A exon
chr17:63542435-63543575
Coord C2 exon
chr17:63543576-63543660
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:ENST00000314672:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.802
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