Special

HsaINT0088973 @ hg38

Intron Retention

Gene
Description
killer cell lectin like receptor D1 [Source:HGNC Symbol;Acc:HGNC:6378]
Coordinates
chr12:10311464-10313513:+
Coord C1 exon
chr12:10311464-10311615
Coord A exon
chr12:10311616-10313409
Coord C2 exon
chr12:10313410-10313513
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:ENST00000381908:5
Average complexity
IR
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:
PF059667=Chordopox_A33R=PD(51.6=92.3)
A:
NA
C2:
PF0005916=Lectin_C=FE(34.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
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