Special

HsaINT0085427 @ hg38

Intron Retention

Gene
Description
KH-type splicing regulatory protein [Source:HGNC Symbol;Acc:HGNC:6316]
Coordinates
chr19:6413348-6415301:-
Coord C1 exon
chr19:6415141-6415301
Coord A exon
chr19:6414121-6415140
Coord C2 exon
chr19:6413348-6414120
Length
1020 bp
Sequences
Splice sites
5' ss Seq
CAGGCAAGT
5' ss Score
3.1
3' ss Seq
TATCTCTTCCCTCTCCGCAGGCT
3' ss Score
12.38
Exon sequences
Seq C1 exon
CGCAAGTGGCCACCGGAGGGGGTCCAGGAGCTCCCCCAGGCTCCCAGCCAGACTACAGTGCCGCCTGGGCGGAATATTACAGACAGCAGGCCGCTTACTACGGACAGACCCCAGGTCCTGGCGGCCCCCAGCCGCCGCCCACGCAGCAGGGACAGCAGCAG
Seq A exon
GCAAGTGGGAATTGCCACCCTCCTCCTCCTCCTTTCTCCTTCCAACCCCCGGCCACCGTCCATCCTGCCTTAGTGGGTAGCGCCGGAAACCCCTTCCCCTGCGGGGTGTGCCCTTGATGCCTGCAGCGGGGGCCGTGTGGCCGGAGGTCTCCGGGAGTCCCCACGCACCGCCAGGGAAGCATTCGCTGGGTCCAGAGGTTAAACGAAGAGGCCTCCCTGCGCCGGCTGCTTGTTCCTGTGTGCCGCTGTCGTGATGCTGGGGAGCGCTGAGACTCGCAGGCGGGACTTCTGAACTGCTGGGGAGTCGGGGGGCAGGCAGACAGCGCGGACGGTGGGCACCGGCCCGGCCGCCACCACCTCGCTCACAATCTGGCCACTTGGGAAGAAAACGTCTATTTTTTCCCCTTCTCTGCATCACTTTTTTGGTTTTTGTTCTTTTTATTCTTTTATTTTTTAAACCCATGATCTTTTTTCCTGTGTCCAAGTGACTGTGTTGCAGGCGGCCTGGCTCTGGCAGGGACTGGTGGGGACGCGGGGAGCGGCCCAGGCCCCTGCCCCGCCGGGCTCAGCCTCCCATGCGCTCGCGCTTGCCTGTGTCCCGGGCTTGTCTGTGAAGTGGGCGTGAAGATCGTTGCCACCTTCCAACCTACCTCACAGGGGTGTTGTGGGGACACCATGATCTCTGGATTGTTCATGTCGTCGTGCTGCGCCGGGAGCCACCGCCCTCCGGAGACAGGGCAGCTCCCCTACGACCCTAGCGCCTCCGCCCTCCGCGGCCCCTCTCCTCTCTTCCTGCTCTGTCCCTCCTTCTCCATCAGGGAGCAGCGTGACTTCAGCGAGTCCCGCGAGCACCTGGCTAGACAGTTAACAAGCACGTCCTTCCAGCCTGAGCCAGCGCAGGTTTGGGAGGGGGCTTCCTGGCCCCCCCCACGGTGTTCCAGCCCCTCCTCTCTTCCGCCCCCTAGTCTCCCACCCTTCCCTCCCCGTAGTGACCAATTCCTATCTCTTCCCTCTCCGCAG
Seq C2 exon
GCTCAATGAATCGAATGAATGTGAACTTCTTCATCTGTGAAAAATCTTTTTTTTTTCCATTTTGTTCTGTTTGGGGGCTTCTGTTTTGTTTGGCGAGAGAGCGATGGCTGCCGTGGGGAGTACTGGGGAGCCCTCGCGGCAAGCAGGGTGGGGGGGACTTGGGGGCATGCCGGGCCCTCACTCTCTCGCCTGTTCTGTGTCTCACATGCTTTTTCTTTCAAAATTGGGATCCTTCCATGTTGAGCCAGCCAGAGAAGATAGCGAGATCTAAATCTCTGCCAAAAAAAAAAAAAAACTTAAAAATTAAAAACACAAAGAGCAAAGCAGAACTTATAAAATTATATATATATATATTAAAAAGTCTCTATTCTTCACCCCCCAGCCTTCCTGAACCTGCCTCTCTGAGGATAAAGCAATTCATTTTCTCCCACCCTCGGCCCTCTTGTTTTTAAAATAAACTTTTAAAAAGGAAAAAAAAAAGTCACTCTTGCTATTTCTTTTTTTTAGTTAGAGGTGGAACATTCCTTGGACCAGGTGTTGTATTGCAGGACCCCTTCCCCCAGCAGCCAAGCCCCCTCTTCTCTCCCTCCCGCCCTGGCTCAGCTCCCGCGGCCCCGCCCGTCCCCCCTCCCAGGACTGGTCTGTTGTCTTTTCATCTGTTCAAGAGGAGATTGAAACTGAAAACAAAATGAGAACAACAAAAAAAATTGTATGGCAGTTTTTACTTTTTATCGCTCGTTTTTAACTTCACAAATAAATGATAACAAAACCTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000088247:ENST00000398148:19
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.859 A=NA C2=1.000
Domain overlap (PFAM):

C1:
PF090055=DUF1897=PD(14.8=7.4),PF090055=DUF1897=WD(100=55.6)
A:
NA
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATATTACAGACAGCAGGCCGC
R:
TCTTCTCTGGCTGGCTCAACA
Band lengths:
346-1366
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