HsaINT0084372 @ hg38
Intron Retention
Gene
ENSG00000184611 | KCNH7
Description
potassium voltage-gated channel subfamily H member 7 [Source:HGNC Symbol;Acc:HGNC:18863]
Coordinates
chr2:162836537-162838618:-
Coord C1 exon
chr2:162838443-162838618
Coord A exon
chr2:162836768-162838442
Coord C2 exon
chr2:162836537-162836767
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
CAAAGAGCGGCTCGCGCGCTGGCCTGGGCTCTAGCCGAGGAGAGATCCCGGGAGAACTCCAGAGCTCCGGGGGAGCGCTCCTCGGAAGACCGGGGCCAACATGCCTGTGCGCAGGGGGCATGTGGCACCACAAAATACATTTCTGGGGACCATCATTCGGAAATTTGAAGGGCAAA
Seq A exon
GTAAGTTCGTTTGTTCTCTTCTCTCGCCCTCGCTTTCTGCCTTGTTAGTGCACTTGGCGTCCACCGCTTCCAAGGTGGGGAGACCGGCAACTCCAGGCTCTGTCAACTTAAGAGGCTGTGAAACCGAGCCAGGAGGTTCGAATGGCAGCGGGAGTGTTCTTCTGATATTAATTTTGATTTACATTTTAGATTACGGTCTCCATTATAGGAGGCAATTTGATCCTCCTCTACCACTGCTCCATTATCTGCCTTGCTACTTAATTTCCTACTATTCTACTATCTTAAAGGGAACGTGCTAGGATAACATGGGTTTATATTTTGAGGCTGTTTTACTGTAGACTTTCTGAAAGTCGGAAGCAGAGCAGACCATACTATTCGAACAAGAGAATGTAAATGGTAGTAGCGATGTAAATGACTATGCAAACTATATTTTACCTTGGTTAAACTGCAAAGCAGTGGTATGACACGGATGCTTGCTTGCTATTAATTTATAGAAGCTAAATTTTGTATTGAATCAATGCAAATATATCCTAAGCAGGGTAATTTGGAAAAGCAGTATCTCATCTGTGCTGGTTCCCGATGCAAATGGCTCATTATTCAAAATAATATTTCTATTCTTTTATTATCCCCTTAAAATTTCCATCTAGAAATTTAAAAATTGAAGTGTAATAAGTAAATCCCACAAAGACTGAATGCACAGAAATTTAATGTTCTCATGTGGACTAAATATAGGGAATAAATTGTTGCTATATAAATATATTAATTTAAAATCCTGTATTTGTTAACTTATCTTCGGTCTTTTCTTAAAACTATATTAATACATTTGTATGCCATATATTTTGCGGTTATTTCAGCACTGCATTTAGTGATGTGAGGATCTGGTACCTTGCGTACAAACTAAACTTGTATATCCTGCTTCACAATCTATGTGGAAATAGTAAATACAATCTGTGATGTAAATTAATAAGCTCTTTATATTAAGAATTCCTGCTACTACAGAAAACTTCAAGGATCTCCCAAAGTAAAAGTAAAAAGGTTGTCATGATATTTACTGTGTGTGTGTAAATATTTTTCTTTTGGGAAATATATATTATGAAAATGTGAATCTTTGCCTTGTTGAATTGCTATTAAATATGAAGTAGTTTCATTACTAAAGCTAGTTGCCTTTGTTTTTAACATGATGTGTGTAACATGCCTAAGAGAGATAGGGAGAAGCCAAAGAATAATAACTACTTTGAGAAAGTTGTATTCAAAGGGCCAAGGTTGAAATGAGAAATCTGACAACTACAGAATGTTTCACTGTTTGACTTTGAAAATATTTACATTACAATTAAATGACATTCTGAAAATATCAATGGGCAGCTGCTTGTCTGAGTGTCCACTAGGAACCCCCGCAGTTGCAGGGCTTGAGAACTAGTCTATTTGGGAAATTCTATTCTTGCAATTTTAAGAGTGGTTTCTTAATACTTTCTGTTAAAATTACTTAGGATCATTAATCTCACATTTAAAGTTTGTGGGGTTTCTTGTGTTTTCTTTTTTCATAAGGGCTGGAGAGATTAGTAATTTGGGGAGGCACCTGCATTTCAGAGCTCTTATTATGCAACAAATTGCTTCAGTGTTACGGAGAATATTGTGGAAGCTTTTTCAAAGATGCCATACTGTCTTCTTATTACAG
Seq C2 exon
ATAAAAAATTTATCATTGCAAATGCCAGAGTGCAGAACTGTGCCATCATTTATTGCAACGATGGGTTCTGTGAGATGACTGGTTTCTCCAGGCCAGATGTCATGCAAAAGCCATGCACCTGCGACTTTCTCCATGGACCCGAGACCAAGAGGCATGATATTGCCCAAATTGCCCAGGCATTGCTGGGGTCAGAAGAGAGGAAAGTGGAGGTCACCTACTATCACAAAAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000184611:ENST00000332142:1
Average complexity
IR
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
Cow
(bosTau6)
No conservation detected
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