Special

HsaINT0088698 @ hg38

Intron Retention

Gene
ENSG00000213160 | KLHL23
Description
kelch like family member 23 [Source:HGNC Symbol;Acc:HGNC:27506]
Coordinates
chr2:169735013-169741537:+
Coord C1 exon
chr2:169735013-169736227
Coord A exon
chr2:169736228-169741384
Coord C2 exon
chr2:169741385-169741537
Length
5157 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGT
5' ss Score
11
3' ss Seq
TGATTTTAATTAATACGTAGGTG
3' ss Score
5.67
Exon sequences
Seq C1 exon
CCATGGCTCTAAAAGGACAAGAAGATTATATTTATCTTTTCAAGGATTCAACACATCCAGTGGATTTTCTGGATGCATTCAGAACATTTTACTTGGATGGATTATTTACTGATATTACTCTTCAGTGTCCTTCAGGCATAATTTTCCATTGTCACCGAGCCGTTTTAGCTGCTTGCAGCAATTATTTTAAGGCAATGTTCACAGCTGACATGAAAGAAAAATTTAAAAATAAAATAAAACTCTCTGGCATCCACCATGATATTCTGGAAGGCCTTGTAAATTATGCATACACTTCCCAAATTGAAATAACTAAAAGAAATGTTCAAAGCCTGCTTGAGGCAGCGGATCTGCTACAGTTCCTTTCAGTAAAGAAGGCTTGTGAGCGGTTTTTGGTAAGGCACTTGGATATTGATAATTGTATTGGAATGCACTCCTTTGCAGAATTTCATGTGTGTCCAGAACTAGAGAAGGAATCTCGAAGAATTCTATGTTCAAAGTTTAAGGAAGTGTGGCAACAAGAAGAATTTCTGGAAATCAGCCTTGAAAAGTTTCTCTTTATCTTGTCCAGAAAGAATCTCAGTGTTTGGAAAGAAGAAGCTATCATAGAGCCAGTTATTAAGTGGACTGCTCATGATGTAGAAAATCGAATTGAATGCCTCTATAATCTACTGAGCTATATCAACATTGATATAGATCCAGTGTACTTAAAAACAGCCTTAGGCCTTCAAAGAAGCTGCCTGCTCACCGAAAATAAGATCCGCTCCCTAATATACAATGCCTTGAATCCCATGCATAAAGAGATTTCCCAGAGGTCCACAGCCACAATGTATATAATTGGAGGCTATTACTGGCATCCTTTATCAGAGGTTCACATATGGGATCCTTTGACAAATGTTTGGATTCAGGGAGCAGAAATACCAGATTATACCAGGGAGAGCTATGGTGTTACATGTTTAGGACCCAACATTTATGTAACTGGGGGCTACAGGACGGATAACATAGAAGCTCTTGACACAGTGTGGATCTATAACAGTGAAAGTGATGAATGGACAGAAGGTTTGCCAATGCTCAATGCCAGGTATTACCACTGTGCAGTCACCTTGGGTGGCTGTGTCTATGCTTTAGGTGGTTACAGAAAAGGGGCTCCAGCAGAAGAGGCTGAGTTCTATGATCCTTTAAAAGAGAAATGGATTCCTATTGCAAACATGATTAAAG
Seq A exon
GTAAGTGGAGATTATGTTTATTTTGTATTTTTTAGATGTCTGGAGCTAGGCCAGCAGTCTCACTTCTCTTGAATTTATCACTTTGGGATGCTATCTAGGAACTATAGTTAATTATACAAATAATGCTACACAGAATGTTCCAGATAAAAACAGTATAGCATAGTTCCCAACTTGTCTGAGAGTTATGAGAATTTATATTCAAGTCAAGGGCTAGATGAAGAGACAAATCTGGACAGTTTTTCATTTTTTCATGTTCTTAAAATTGAACCCTTTAAAATTCTGCTATTCAACTTTTTCCTCTCAAAATACGCTGATCAGCTCTCAAGAGGTCCTTCATTAAAACCTTGGAAGGTTTGGTCCCTACAGGATGTAACAAAGTACATTCTTCCAGGAACTAGAGACAACGTCTGCTTTTGCAATTCAGTCCTCTCTGAGAGGGGCAGACACCATACTCTCCCTCATGTGGCCCACAGAACCCGGCACACCCCTGGGTCTCGGTATCTGTCTGATAAACACTATTTTCTGCTGTGTTTGGCGATTTGTTTGCCTTGCTCTCCTTCTCTCCCACTGGAAAAAAAGTTAAACGGGAATCTTATTTCATTGTATTTATTCATTGGTGCTGAGGAGTTGTACAAAAACAACTGGTAGGTCGTTACCAAATTTGTATCATTTTGTCCCAAATGTTTCTTCCCAGGCTTTTCTGTTTCTTTTTTAATGCTAGTGAGAGTGTGGGAATTTGACCTGGTCTGGAAATCTGACCTGGTATGATCCTTGGATGACAGGCAGGAAGCTGAGAGGCAGAACAGTCTTGGGATCAGGCACGCTGCCTCTGAAGCTAAACTGCCTGCATCCAGATCCCTGCTTTCCTCTTACTTGCTGATGAGCTCTGGCAAATTGTTTAATCACCCTGTGCCCCCGTTTTGTCATCTGTATAATGGGGATGACAATATTACCTAGTCTCGGATCATTGAGAGGATTAAATTAATCTATGCTTGTGAAGTGCCTAGAACAGTGTCTGACACAGAGTAAGCATGCTATAAATGTTACGCATGATTGTCCTGAATGTCGGTATTGAAGGACATGTCAGCTCTTATAGAGCAGAAATTGATTTCATGTGAAGTTGTGACCACTGTCACACCAGGGTGGGAGAAGGTAGCAGAAAGCCCGGTGCTGTTGCTCCCCTGGTTTTTGTCTTTGCCTGAGTCTCACCACTACTTGCCGATTCCAGGAGGGCTCTGAATGTCCTGACCCCTCTTCTGCAAAAGAAATAAGAAAAGTCCATATATTTAAGGAGCTATTGTAAACTAGCATACATTTCTGATTCTGTTTTTTAAGGATGATATAACAGTTTCAATGGTTTTGTGGTTCAGAGTATATTTCTTTTTCTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAATGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTAGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCCCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAAGGGTGGGTTCAGAGTATATTTCTTTGAGAATGAAAGCTTATTACTTTACTGAAATTTTAAAAATTTATATTTAGAACAGTGCTTGTTGAAAAAAGATATGCTGCGATGGTGTATCTACTGTGAAACAAAAGCCATATGCATGCTTGCGTTAACCTTGAGTGGAGTAGGAGACCCTCATACCTCAAAGTCCTCCCTCACCTGCTAACTGGGTCTGAAATTCCAGTTTTATACTTTGAACTCAAAGCTTTGATTCTTGTTTATATCTAGTCATCCCAGGGAGAGGTAACACTGCCAGTTATGTGCAGTTTTGACTACTGCTTGTTTTGGTGGGTGGACTCATACAGAACTTTTTTTAAACAATTTTTAAAATTTTATTTTTAATTTTTAAAACTAGAAATGGCGGGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACCCCTGGCCTCAAATGATTCTCCTACCTTGGCCTCCCAAAGTGCGGGGATTATAGGTGTGAACCACCACACCCAGCCATACTGAACTTTTAGATTCCCATTTTTTGGTAGAAAGGATAACATTTTTTTCAATTCGTTTTATTTTGTAGCCTTGAAGTGAAATAGCAGCTTTCTCTGGTAATAAACTTAATTTGGGTACAGTCAAATTTAAAATTTATTACCTTTTTTTGGTCCTGGACCCAAATTAAGTTCACTAATGTACAGAGAATAAATAAATACTTGGCTGTTTAGGAACTCCTGAATCTTTATTTTTTTCCATCATAACTGCTCTACTTATAAATCCACTTTTATTTTGGAATAGAAAGGAACAAGAAGATTGAACTGTATCATGCAAAATGGTGCTAGGTAAAAGTTAGTGGAAAGACAAAACCAACGTTTTCAACTAAAATGATCCTCATCATCTTTCTTCCTTTCTTCATCTTCCCTCCAAACCTATTTCCTCCCCCTCCTCCCCCTCCCCTTCCTCACCCTCCCCTCTCTTCCCCCTTCCCCTCCCTCTCCTCCCTATCTCCCTTTCATGTTTCGCCTATCTTCCTCTTTCTTCCTCCTCCTTCCCTCTCCTCCCCCTCCTCCCTCTCCTCCCCCTTCCCCTCCCCCTCCCCCTCCTCCCCTTCCCCTCCCCCATCTCCTCTCCCTCCTTCTGCCTTCTTCTTCCTCCTCCTCCTTCCCCTCCCTCTCCTTCCCCTCCTCGACTTCCCCCACCCCTCCTTGTTTTGGCATCAGTGATTCCAGTTTTTCCAGCTCAGGACCTCAAAATCGGTTTGGTTTGCCTCTGCGTCAGTCAGTCATCAAGACCTGTGTGTTTTACCTGTCTCTTTCCTCTATGCTCTTCCCTCCATACCCAAAGCCCCTTCAAAATCAGGCCCTCGAGACCGCCCACCCTGGCCAGTAACTAGATCTTTCTGGTACCTGTTCTTCCTTTGTTAGTTGCTCTATTCCTCTGTTTAAAAACCTTTAAAATCTGGCTGAATTAAATCCAGATTCTTTGTTGGGCATCAGTAAGTATCCTTTGCTACATGGCTTCAACTTACCATGCCAGCCTTAAAGTCCCATGCAACAACCCTCAATGTGCCACCTGCCCTGGTCAAACTGGGCTACTTAACATTGTCCAGTAAGCCTTTGCACTGGCTTTTCCCTCTGTCTAGAATGGCCTCCTCTCATCTATACTTGCCAACTTCCTACCATCACCCAGGTCAAATTCCACCACCACCTGCTGTGATTTCCCTCGTCAAATGCAGTGTTTTCTTGCCCTGACCATGCCCAGCAGTTCATCTGTCCCTTTTTTCATGGTGTTTCTTCCATTTTATATCTAGTGTTCTAATTACAGCCATGTGCCACTTAACAATGGGGATATGTTCTGAGAAATGTGTGATTAGGCAATTTTGTCATGTGAACGTTATACTTAAACAACAGGCTATACCATACTAATTCTACAGCCTAATACACACCTAGGCTGTGTGGTATAGCCTGTTACTCCTAGGCTTCAGACCTGTACAGCATGTTACTATACTGAATATTCTAAGCAGTATAACACAATGGTAAGTCTTTGTGTATCTAAACATAGAAACAGTACAGTAAAAATACAGCATAAAAGATAAAAATGGTAGACCTATTTGGGGCACTTACCATGAATGGAGCTTGCAGGACTGGAAGTTGTTCTGGTTGAGTCGGTGAGTAAGTGGGGAGGGATTGTGAAGGCCTAGGACATTACTGTACACTACTGTAGACTTTTTACTTTTTTTGAGACAGGGTCTTGCTCTGACACGTACGCTGGACTGCGGTGATGTAAACATAGCTCACTGCAGCCTTGACCTCCTGAGATCAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACATGCTATCACACGTGGCTACTTTTTTATTTTTTGTAGAGATGTGGTCTCACTTTGTAGTCCAAGCTGGTCTCAAACTCCTCCTGGGCTCAAGTGATCCCCTGCCTCAGCCTCCTAAACTTCTGGAATTACAGGCATTACTGTAGACTTTATATAGCTTATAAAAATACTTTCTTTTTATCCTTATTCTATAAGCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACTGTCTTGGCTCACTGCAAGCTCAGTCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTAGGACTACAGGCGCCCACCACCACGTCCTGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCACCTTGACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTCTATAAGCTTTTTTATATTATATATATATATATATATATATATAACTTATTTATTGATTTTTTTACTCGTTAAACTTTTTTGTTAAAAAAGTAAGACACAGACATACACATTAGCTGAGGCCTATACAGGGTCAGGATCATCAATGTCAGAGTCATCAATATCACTGTCTTCCACCTCCACATCTTGTCCCACTTGCAGGCTTTCAAGGGCAATAACAGGCATAGAGCTATCCTCTCCTATGATAATAATGCCTTCTTCTGGAATACCTCTTGAAGGACCTGCCAGAGGCGTAGATTTATTTACAACAGCATCACCAGAAACACATGAGAATGCTTTATGCCATGTCTTTAAAACAGCTACCACAGTATCACTAGGTGATAGGACATTTTCCACTCCATTATAATTTTATGGAGATCATTGTGCGTGGTGCATGGCTGTGTTTGTGTGCACGTCTCACCCTCTCTTAAGAGCACAAAGAGCCTTCCTTTTTTATTCTTTTGTCCCTTATAGCACTTAGCACAGTACCTTGCATTTTACCATCAGTAATAACAAAAACAACAATAAATTTAGCCCAGGGTTCACTGCAAAAAAGAACAAAAGATCAATCTAAAGATGTGATTTTAATTAATACGTAG
Seq C2 exon
GTGTGGGAAATGCTACTGCCTGTGTCTTACATGATGTTATCTACGTCATTGGTGGCCACTGTGGCTACAGAGGAAGCTGCACCTATGACAAAGTTCAGAGCTACAATTCCGATATCAACGAATGGAGCCTCATCACCTCCAGTCCACATCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000213160:ENST00000392647:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.050
Domain overlap (PFAM):

C1:
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)
A:
NA
C2:
PF0134420=Kelch_1=WD(100=90.4)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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