HsaINT0088973 @ hg19
Intron Retention
Gene
ENSG00000134539 | KLRD1
Description
killer cell lectin-like receptor subfamily D, member 1 [Source:HGNC Symbol;Acc:6378]
Coordinates
chr12:10464063-10466112:+
Coord C1 exon
chr12:10464063-10464214
Coord A exon
chr12:10464215-10466008
Coord C2 exon
chr12:10466009-10466112
Length
1794 bp
Sequences
Splice sites
5' ss Seq
CTGGCATGT
5' ss Score
0.38
3' ss Seq
TTGTCTTTTACTTGAAGCAGGAT
3' ss Score
4.01
Exon sequences
Seq C1 exon
ACTCTGACTGCTGTTCTTGCCAAGAAAAATGGGTTGGGTACCGGTGCAACTGTTACTTCATTTCCAGTGAACAGAAAACTTGGAACGAAAGTCGGCATCTCTGTGCTTCTCAGAAATCCAGCCTGCTTCAGCTTCAAAACACAGATGAACTG
Seq A exon
GCATGTGCTGAGTCTGATTTTCTACATTTTCTTTGATCTAGAAAAATATACTATCTAAACAAGTTAAATACTTTGGTTTAAGTCATTAATCACATAGTAAGTGGATGGTTATATTGGAATTGAGTTATCTGTTCTGTGTACCTTAAAGTAGTCATTGTAAAATCTTTATTAAATTCCTTAATGATTATATCATGGGAATACAAATCAAGATAGGTGCCAAATAAAGTGAAAGAAACTTTTCAGGAAGAATTCAAAGAAGATAATAGGTCATTATATTTACCCATTTTATTTGAAGAACCAACTAAATGACTGTGATTCTTAACTCTTTTAATTGAATTTATAATATCTTTTATAATTTTATAGTTTTTGTCATCTTTCTGGGATATAAGCTAGTATGGAAATATGGTAAGAAAACGTACCCAATTCTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTACTCTGTTGCCCAGGCTGGAGTGCACTGGTGCAATTTCAGCTCACTGCAGCCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCTGCCACCAGGCCTGGCACTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTATTGGCGAGGCTGGTCTTGAACTCCTGACCTCGGGTGATCTACCCTCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCGTGCCTGGCCCTAATTACCCAATTCTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAGCTCCTCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACAACCACGCCCAGTTAATTTTGTGTATTTTTAGTAGAGACGCGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCCTAATTACCCAGTTCTTAAGAAAAAGTGCGGCCGGGCGCAGTGGCTGAAACCTGTAATCCCAGCACTTTGGGAGGCCGAGGAGGGCGGATCACAGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCACGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCGGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGTCCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCCTCTCAACAAAAAGAAAAAAGAAAAAGCGAAAAACTTCTCCTGCTGCACGTGGCACCTTTGCGGATTATAGGTTGAGTAGATTATACCCATGGGATTCCTCCTTCACAATACCATGATTTTGGAATCAAATTTAATCTTTGATCCCCCGTGAAGAAAGTGTTCCATGAAAACTCTATCTCCTTTTAGAAGGTTTTTAATTCTTCAGGAAGTGAGATTTTGTGGTATTTTTTCTCCATATATGAATGGGCCTGATAAATGAGAACTTTCAGTCTTGTGATTATACCTTTTAAATAGGAAGTTAAAAATAATTTCCGTTTGTGTGATGGACAGGCTGAATCTTATTCTAAACACTGACTTTCCCTCAAAATATGTTATTCCCAGAATAGATTAAAATTAGATTAATGTGATTGTCTTTTACTTGAAGCAG
Seq C2 exon
GATTTTATGAGCTCCAGTCAACAATTTTACTGGATTGGACTCTCTTACAGTGAGGAGCACACCGCCTGGTTGTGGGAGAATGGCTCTGCACTCTCCCAGTATCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134539-KLRD1:NM_001114396:5
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF052948=Toxin_5=PD(51.5=32.1),PF059667=Chordopox_A33R=PD(51.6=90.6)
A:
NA
C2:
PF0005916=Lectin_C=FE(34.3=100)
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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:
ACTCTGACTGCTGTTCTTGCC
R:
ATACTGGGAGAGTGCAGAGCC
Band lengths:
254-2048
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)