HsaEX0032985 @ hg38
Exon Skipping
Gene
ENSG00000140015 | KCNH5
Description
potassium voltage-gated channel subfamily H member 5 [Source:HGNC Symbol;Acc:HGNC:6254]
Coordinates
chr14:62849653-62981264:-
Coord C1 exon
chr14:62980872-62981264
Coord A exon
chr14:62950133-62950559
Coord C2 exon
chr14:62849653-62849852
Length
427 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTTAAATCCAGGGA
3' ss Score
8.26
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GTTCTTCAGCTGGGATCAGATATCCTTCCTCAGTATAAACAAGAAGCGCCAAAGACGCCACCACACATTATTTTACATTATTGTGCTTTTAAAACTACTTGGGATTGGGTGATTTTAATTCTTACCTTCTACACCGCCATTATGGTTCCTTATAATGTTTCCTTCAAAACAAAGCAGAACAACATAGCCTGGCTGGTACTGGATAGTGTGGTGGACGTTATTTTTCTGGTTGACATCGTTTTAAATTTTCACACGACTTTCGTGGGGCCCGGTGGAGAGGTCATTTCTGACCCTAAGCTCATAAGGATGAACTATCTGAAAACTTGGTTTGTGATCGATCTGCTGTCTTGTTTACCTTATGACATCATCAATGCCTTTGAAAATGTGGATGAG
Seq A exon
GGAATCAGCAGTCTCTTCAGTTCTTTAAAAGTGGTGCGTCTCTTACGACTGGGCCGTGTGGCTAGGAAACTGGACCATTACCTAGAATATGGAGCAGCAGTCCTCGTGCTCCTGGTGTGTGTGTTTGGACTGGTGGCCCACTGGCTGGCCTGCATATGGTATAGCATCGGAGACTACGAGGTCATTGATGAAGTCACTAACACCATCCAAATAGACAGTTGGCTCTACCAGCTGGCTTTGAGCATTGGGACTCCATATCGCTACAATACCAGTGCTGGGATATGGGAAGGAGGACCCAGCAAGGATTCATTGTACGTGTCCTCTCTCTACTTTACCATGACAAGCCTTACAACCATAGGATTTGGAAACATAGCTCCTACCACAGATGTGGAGAAGATGTTTTCGGTGGCTATGATGATGGTTGGCT
Seq C2 exon
CTCTTCTTTATGCAACTATTTTTGGAAATGTTACAACAATTTTCCAGCAAATGTATGCCAACACCAACCGATACCATGAGATGCTGAATAATGTACGGGACTTCCTAAAACTCTATCAGGTCCCAAAAGGCCTTAGTGAGCGAGTCATGGATTATATTGTCTCAACATGGTCCATGTCAAAAGGCATTGATACAGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000140015-'10-16,'10-13,13-16
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF084125=Ion_trans_N=WD(100=45.0),PF0052026=Ion_trans=PU(29.7=49.6)
A:
PF0052026=Ion_trans=FE(64.8=100)
C2:
PF0052026=Ion_trans=PD(4.6=14.9)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCCTGGCTGGTACTGGATAG
R:
ATGACTCGCTCACTAAGGCCT
Band lengths:
356-783
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development