HsaINT0074179 @ hg38
Intron Retention
Gene
ENSG00000132702 | HAPLN2
Description
hyaluronan and proteoglycan link protein 2 [Source:HGNC Symbol;Acc:HGNC:17410]
Coordinates
chr1:156623467-156624160:+
Coord C1 exon
chr1:156623467-156623575
Coord A exon
chr1:156623576-156623806
Coord C2 exon
chr1:156623807-156624160
Length
231 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
3' ss Seq
CTGTGGCCCCCTCTGCCCAGCAT
3' ss Score
5.65
Exon sequences
Seq C1 exon
ACGGTGCCGGGCTGACCCCCCATCATGCCAGGCTGGCTCACCCTCCCCACACTCTGCCGCTTCCTTCTTTGGGCCTTCACCATCTTCCACAAAGCCCAAGGAGACCCAG
Seq A exon
GTAAGACCCCAGCCCAGGCCAGAATCTGGGGGAGGCTTGGGGAGACTGCAAGGGTGGGGAAAGGGGAAAGGGCAGTTGTTGCAGGTACCCAGGGACTGAAAGTCATTGCTGAGAAGGCAATGGAGGAGAGGGTTGGGGGGCTCTGGAGAAAGCATTTGGGGAGCAGGGTCTGATGGGCACTTGGGGCAGTGAGGATTGGGGGTTCCTGCCACTGTGGCCCCCTCTGCCCAG
Seq C2 exon
CATCCCACCCGGGCCCCCACTACCTCCTGCCCCCCATCCACGAGGTCATTCACTCTCATCGTGGGGCCACGGCCACGCTGCCCTGCGTCCTGGGCACCACGCCTCCCAGCTACAAGGTGCGCTGGAGCAAGGTGGAGCCTGGGGAGCTCCGGGAAACGCTGATCCTCATCACCAACGGACTGCACGCCCGGGGGTATGGGCCCCTGGGAGGGCGCGCCAGGATGCGGAGGGGGCATCGACTAGACGCCTCCCTGGTCATCGCGGGCGTGCGCCTGGAGGACGAGGGCCGGTACCGCTGCGAGCTCATCAACGGCATCGAGGACGAGAGCGTGGCGCTGACCTTGAGCTTGGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132702:ENST00000255039:3
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=0.017
Domain overlap (PFAM):
C1:
PF0768612=V-set=PU(3.3=13.8)
A:
NA
C2:
PF0768612=V-set=PD(98.3=97.5),PF0019312=Xlink=PU(0.1=0.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACCATCTTCCACAAAGCCCA
R:
GATGACCAGGGAGGCGTCTAG
Band lengths:
292-523
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