HsaINT0088970 @ hg38
Intron Retention
Gene
ENSG00000134539 | KLRD1
Description
killer cell lectin like receptor D1 [Source:HGNC Symbol;Acc:HGNC:6378]
Coordinates
chr12:10307978-10309480:+
Coord C1 exon
chr12:10307978-10308084
Coord A exon
chr12:10308085-10309387
Coord C2 exon
chr12:10309388-10309480
Length
1303 bp
Sequences
Splice sites
5' ss Seq
CAGGTATGT
5' ss Score
9.8
3' ss Seq
CTGTCTGTCTTTCTCTACAGTGT
3' ss Score
12.25
Exon sequences
Seq C1 exon
ATTCTTTAATCTCCAGCTCAGCTTCAACAATTCAACGCTGTTCTTTCTGAAAAAGTACACATCGTGCCTTCTCTACTTCGCTCTTGGAACATAATTTCTCATGGCAG
Seq A exon
GTATGTGTGATTTCAGTCACTAAATTAAAAATAACCAGAAAAGCTATTTCTTGGATTGGCTGATTTTGGGGTAATGCTTTAAGAGAAAAGGACATGATTAACAGTGGATGTTTTTAGGATTTTCATGCATTAGCACTTTCCACATTCATTATATTTTCCTGATTCTTCATTGTATAACTTAGACATGATTTCATGAAGTTTTTTCCACAGGTTTGAAGAGTGGTTTCTGACAGGGCTACCTTTAAATTCTGAGTGAGAACTGAACTTTAGCCTGGTTAAATTGTGAGCAACAGTGTTCTAGTATAGCAATAGAAAATGCCAAATATTAATGACACAATGCTGAAAAGGTTTTAATTGACTATTTATGTTGTGACATCCAAAAATTACACAAATGAACAGTTTGACACATTGTACTGTTGTTAATGACATCACTCTTTGAGAGTGTGTTCACGTTAGCACAGAATCTCCTAATGTTGAAATGTTTTAGGTGAAAGGCCTAAAAGCAAGTAATTTTGAGTATGAACAAATGGAATGTTCTAGGGGAAAAAGGATTGTTTATGTATGTTCAATATACTGTGAAATGAAGCCAGGCCTCAAAGTTGTTACCCATCAATTTGTTATCAGTTATCACACCAAGTCCAGAATGTTCCTATGTCTTCTTTTCCCTATAATATCTCTACGAACCAATGAGCAGCTAGACATTTATCAGAGCAAAACCTGCACTGAGATGAGGAGAGGGCATACTCTCAACTAGTATTATTGTGACAATGGTAGACTACGTTGAATGAAAGATTCTTGAGCTAGACACACTTTCATGTGATTTCTGACTTGGATACTTACTTGCTTTGATACCTTGAGAAAATAACATTATTATTGGACCTTATGTTTTCTCATCTATGTAATGAGAACCATACTATCTATCTTGTGATTTTGTTGAGAGAATAAAAATAAATGCCTGTTATGTAAGTCCATAAAACACAACGTGGTGCTTGTTAATATCTTCTACCTCCAGATCTTTAAGCACCTCTGCCAATTTAAAATAAATGGTAAATTCACTTTACTGCAACAGAGCTGGTAGAGAAGAAAATGTTTGAATAATCTTCCTGAAGAATAAGATACATCACATAAAAATGTTGGTATTGGGTGAAGTCCCGATTGGAAAGTCTTCAGTGTTTTATTGGCAAGATGACTCCGTTATCAAATGAAAGAATGTTGTGGATTCTCCGTCACTAGTTTCTGCTTTTAAGAACTCAGCTCCTGAGTTTGCTCTTTAAGTCATTACTCTGTCTGTCTTTCTCTACAG
Seq C2 exon
TGTTTAAGACCACTCTGTGGAGGTTAATTTCTGGGACCTTAGGGATAATATGCCTTTCGTTGATGTCTACGTTGGGAATTTTGTTGAAAAATT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134539:ENST00000381908:2
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=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF059667=Chordopox_A33R=PU(24.7=71.9)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
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)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCTTTAATCTCCAGCTCAGCTTCA
R:
ATTTTTCAACAAAATTCCCAACGT
Band lengths:
198-1501
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