HsaEX0034814 @ hg38
Exon Skipping
Gene
ENSG00000213160 | KLHL23
Description
kelch like family member 23 [Source:HGNC Symbol;Acc:HGNC:27506]
Coordinates
chr2:169733846-169741537:+
Coord C1 exon
chr2:169733846-169734087
Coord A exon
chr2:169735013-169736227
Coord C2 exon
chr2:169741385-169741537
Length
1215 bp
Sequences
Splice sites
3' ss Seq
TTATTTCATATTTATTGCAGCCA
3' ss Score
7.05
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
ACGGCCCGGCGACGGGGGAGTTCCCGCGAGTGGCCTCGCGCCCAGACCGTGCGGGGGGCTGTTCGGGTGGAGGCGGGGGAGCCGCCGGGACACCAAAATAGGAGCTGCTTGTGGGGTGGAGCGGCACTAGCTGGCGGCTTCCGAGCGCCTCTTCCAAAGATGGTCAGAGGGGCCGGAGGCGTCCCCGCTCCCGCTCGCTACTAGCCCGCGGGCCAGCGCCGCGTCCCGAGCCCCGGCGGGAG
Seq A exon
CCATGGCTCTAAAAGGACAAGAAGATTATATTTATCTTTTCAAGGATTCAACACATCCAGTGGATTTTCTGGATGCATTCAGAACATTTTACTTGGATGGATTATTTACTGATATTACTCTTCAGTGTCCTTCAGGCATAATTTTCCATTGTCACCGAGCCGTTTTAGCTGCTTGCAGCAATTATTTTAAGGCAATGTTCACAGCTGACATGAAAGAAAAATTTAAAAATAAAATAAAACTCTCTGGCATCCACCATGATATTCTGGAAGGCCTTGTAAATTATGCATACACTTCCCAAATTGAAATAACTAAAAGAAATGTTCAAAGCCTGCTTGAGGCAGCGGATCTGCTACAGTTCCTTTCAGTAAAGAAGGCTTGTGAGCGGTTTTTGGTAAGGCACTTGGATATTGATAATTGTATTGGAATGCACTCCTTTGCAGAATTTCATGTGTGTCCAGAACTAGAGAAGGAATCTCGAAGAATTCTATGTTCAAAGTTTAAGGAAGTGTGGCAACAAGAAGAATTTCTGGAAATCAGCCTTGAAAAGTTTCTCTTTATCTTGTCCAGAAAGAATCTCAGTGTTTGGAAAGAAGAAGCTATCATAGAGCCAGTTATTAAGTGGACTGCTCATGATGTAGAAAATCGAATTGAATGCCTCTATAATCTACTGAGCTATATCAACATTGATATAGATCCAGTGTACTTAAAAACAGCCTTAGGCCTTCAAAGAAGCTGCCTGCTCACCGAAAATAAGATCCGCTCCCTAATATACAATGCCTTGAATCCCATGCATAAAGAGATTTCCCAGAGGTCCACAGCCACAATGTATATAATTGGAGGCTATTACTGGCATCCTTTATCAGAGGTTCACATATGGGATCCTTTGACAAATGTTTGGATTCAGGGAGCAGAAATACCAGATTATACCAGGGAGAGCTATGGTGTTACATGTTTAGGACCCAACATTTATGTAACTGGGGGCTACAGGACGGATAACATAGAAGCTCTTGACACAGTGTGGATCTATAACAGTGAAAGTGATGAATGGACAGAAGGTTTGCCAATGCTCAATGCCAGGTATTACCACTGTGCAGTCACCTTGGGTGGCTGTGTCTATGCTTTAGGTGGTTACAGAAAAGGGGCTCCAGCAGAAGAGGCTGAGTTCTATGATCCTTTAAAAGAGAAATGGATTCCTATTGCAAACATGATTAAAG
Seq C2 exon
GTGTGGGAAATGCTACTGCCTGTGTCTTACATGATGTTATCTACGTCATTGGTGGCCACTGTGGCTACAGAGGAAGCTGCACCTATGACAAAGTTCAGAGCTACAATTCCGATATCAACGAATGGAGCCTCATCACCTCCAGTCCACATCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000213160-'5-20,'5-13,8-20=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion (Ref, Alt. ATG (<=10 exons))
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.050
Domain overlap (PFAM):
C1:
NA
A:
PF0065126=BTB=WD(100=26.9),PF0770710=BACK=WD(100=25.2),PF0134420=Kelch_1=WD(100=8.1),PF0134420=Kelch_1=WD(100=11.6),PF0134420=Kelch_1=WD(100=11.4)
C2:
PF0134420=Kelch_1=WD(100=90.4)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGCTGTTCGGGTGGAGG
R:
TGTGGACTGGAGGTGATGAGG
Band lengths:
335-1550
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development