HsaINT0084401 @ hg38
Intron Retention
Gene
ENSG00000183960 | KCNH8
Description
potassium voltage-gated channel subfamily H member 8 [Source:HGNC Symbol;Acc:HGNC:18864]
Coordinates
chr3:19450106-19451404:+
Coord C1 exon
chr3:19450106-19450305
Coord A exon
chr3:19450306-19451154
Coord C2 exon
chr3:19451155-19451404
Length
849 bp
Sequences
Splice sites
5' ss Seq
GAGGTAATG
5' ss Score
8.73
3' ss Seq
TCCTTCATCTTCTCTGACAGCTT
3' ss Score
9.61
Exon sequences
Seq C1 exon
CCTTGATGCACGCCTTGGTGTTTGGAAACGTGACAGCAATCATACAGAGGATGTACTCCAGATGGTCCCTCTATCACACTAGAACTAAGGATCTGAAAGATTTCATCCGTGTCCATCACTTGCCCCAACAACTCAAGCAGAGGATGCTCGAATATTTTCAAACAACCTGGTCAGTCAACAATGGAATAGATTCAAATGAG
Seq A exon
GTAATGTTCATTTCTCATGTTGTTTTCAGGCAGAAAGCACATATTCTAAGGTAAACGCAAGATGTTCTAATGCAGGTATCAGAAGTGAAAAGCATACCAACTTCTTTATTCCTTTACATTTTTAATTATTCATGAATCCCAATCCATCTTCTTTCACTTGCTTTGGCTTGTGTTTTCACAATGCCAATTTGGATTGACCGAAGTTTTATATTAACTTGCTGCTTATTCGATCAGGTGGATTTATTTTCCTTCTTATTGTCTCTTTTCAAAGGAATCAATTCTTACGATAATTTAACAGTGTAATCTGGGATAATTATATTAATCAAGTTTCTGTTTCCCTTAACATCAATAAAGTTAAAAAATTCCATCAAAGGGGTTATCTTTATACTTCCAGAAACACCCCAGACTGCCACTATAAAAACAGTATTATATAAATCAACGAACCATTTCATCAACCCACCAGCCAAACCTGTAACCAACATTTTAGTAGTGATTAATTGGTTTCTCCTCTCTTCGCATAATCACCAGTGGGTCCAAATTCCATATCTTCTGTCCTGACTAGGACTCTCTGTGAGAAGGAAGTCACAATGAGTTATATGTTTTCCTGCTAGAGGCTTTTTTAATTTGTTCTGTTTCTCCAGACTTCTTATCAGCTGATTATTCAGTAGCACATAATTCACAGTCACTGAAAAATCTCTCCAGGATTATACATACTTAGATTTCCTCTTCTGTATGCTGGATGGCCAAACAGCAGGAGACAGTAGGAAGAGCATCCCTGCTGTCTTGCAAAGTAAATCAGTTAGACTACACTTACCCCAATTTGATTTCCTCCTTCATCTTCTCTGACAG
Seq C2 exon
CTTTTGAAAGACTTTCCAGATGAACTGCGTTCTGACATCACTATGCACTTGAACAAGGAGATCTTACAGTTGTCCCTTTTTGAATGTGCCAGCCGGGGCTGCCTCAGGTCTCTGTCTCTACACATCAAAACCTCTTTCTGTGCTCCGGGGGAGTATCTGCTGCGTCAAGGGGATGCTTTGCAGGCCATCTACTTTGTATGCTCGGGCTCCATGGAAGTTCTTAAAGACAGCATGGTGCTGGCTATTCTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183960:ENST00000328405:9
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=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=PD(4.7=14.9)
A:
NA
C2:
PF0002724=cNMP_binding=PU(45.5=47.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTTGGTGTTTGGAAACGTG
R:
CTTGACGCAGCAGATACTCCC
Band lengths:
358-1207
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