HsaINT0074181 @ hg38
Intron Retention
Gene
ENSG00000132702 | HAPLN2
Description
hyaluronan and proteoglycan link protein 2 [Source:HGNC Symbol;Acc:HGNC:17410]
Coordinates
chr1:156624351-156624783:+
Coord C1 exon
chr1:156624351-156624467
Coord A exon
chr1:156624468-156624600
Coord C2 exon
chr1:156624601-156624783
Length
133 bp
Sequences
Splice sites
5' ss Seq
AGGGTGAGC
5' ss Score
7.75
3' ss Seq
CCTCCGCCGTCTCCCGCCAGCTT
3' ss Score
9.08
Exon sequences
Seq C1 exon
GTGTGGTGTTTCCGTACCAACCCAGCCGGGGCCGGTACCAGTTCAATTACTACGAGGCGAAGCAGGCGTGCGAGGAGCAGGACGGACGCCTGGCCACCTACTCCCAGCTCTACCAGG
Seq A exon
GTGAGCGGCCGAACCCAGCACTTCCCAAGCCCCGCGGAGCTGTCTCAGGGGCCCGAGAGAGGGCGCCAGGCGAGCTCAGTCTGGCTCCTGCCTATGACGCCTCTTATCCCCGACCTCCGCCGTCTCCCGCCAG
Seq C2 exon
CTTGGACCGAGGGTCTGGACTGGTGTAACGCGGGCTGGCTGCTCGAGGGCTCCGTGCGCTACCCTGTGCTCACCGCACGCGCCCCGTGCGGCGGCCGAGGCCGGCCCGGGATCCGCAGCTACGGACCCCGCGACCGGATGCGCGACCGCTACGACGCCTTCTGCTTCACCTCCGCGCTGGCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132702:ENST00000255039:5
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=0.032
Domain overlap (PFAM):
C1:
PF0019312=Xlink=PU(41.1=97.5)
A:
NA
C2:
PF0019312=Xlink=PD(57.9=88.7),PF0019312=Xlink=PU(0.1=0.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGCCGGTACCAGTTCAATTA
R:
AGAAGGCGTCGTAGCGGTC
Band lengths:
251-384
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