HsaINT0074188 @ hg38
Intron Retention
Gene
ENSG00000187664 | HAPLN4
Description
hyaluronan and proteoglycan link protein 4 [Source:HGNC Symbol;Acc:HGNC:31357]
Coordinates
chr19:19260813-19261563:-
Coord C1 exon
chr19:19261446-19261563
Coord A exon
chr19:19261176-19261445
Coord C2 exon
chr19:19260813-19261175
Length
270 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
3' ss Seq
CCCTGCTTGGTTGTCCTCAGAGG
3' ss Score
8.95
Exon sequences
Seq C1 exon
GTGTGCGCTCGGGCGGCCCTCGGTCCCGGCGCGCTCTGGGCCGCGGCCTGGGGCGTCCTGCTGCTCACAGCCCCTGCGGGGGCGCAGCGTGGCCGGAAGAAGGTCGTGCACGTGCTGG
Seq A exon
GTGAGTCAGGGCCGCTAAAAGTGGTCTTCTCCGCGAAAAGCAGAAGTGGCCAAGTGCGGAGAGGGGTAGCGGGTAGGGCGTTCCTGACGTCCGCGGTTCCCCCAGCCACTCCCCATCTGAGCCCCTCGCCCTCTCCCTGAGCCCCTGGACCCTTCTGATTCCCCGACCCCCACCCGAGTCTTCCCACGTTCCCCTCCCCAGAGACACCTTCCCCAGAGGCCCCCTTCTGCCCCTAGGCCCCTCCTCTGAACCCTGCTTGGTTGTCCTCAG
Seq C2 exon
AGGGTGAGTCGGGCTCGGTAGTGGTACAGACAGCGCCTGGGCAGGTGGTAAGCCACCGTGGTGGCACCATCGTCTTGCCCTGCCGCTACCACTATGAGGCAGCCGCCCACGGTCACGACGGCGTCCGGCTCAAGTGGACAAAGGTGGTGGACCCGCTGGCCTTCACCGACGTCTTCGTGGCACTAGGCCCCCAGCACCGGGCATTCGGCAGCTACCGTGGGCGGGCTGAGCTGCAGGGCGACGGGCCTGGGGATGCCTCCCTGGTCCTCCGCAACGTCACGCTGCAAGACTACGGGCGCTATGAGTGCGAAGTCACCAATGAGCTGGAAGATGACGCTGGCATGGTCAAGCTGGACCTGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187664:ENST00000291481:2
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=0.016
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0768612=V-set=PU(97.5=95.1),PF0019312=Xlink=PU(0.1=0.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAAGAAGGTCGTGCACGTG
R:
GAGGACCAGGGAGGCATCC
Band lengths:
293-563
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