Special

HsaINT0039318 @ hg38

Intron Retention

Gene
ENSG00000204262 | COL5A2
Description
collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210]
Coordinates
chr2:189053895-189054212:-
Coord C1 exon
chr2:189054159-189054212
Coord A exon
chr2:189053949-189054158
Coord C2 exon
chr2:189053895-189053948
Length
210 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGT
5' ss Score
11
3' ss Seq
ATCTAAAATCTGCTTTCTAGGGT
3' ss Score
7.03
Exon sequences
Seq C1 exon
GGTCTTCCAGGTCCTTTGGGCCCTCCAGGTCCGGCAGGTCCTACTGGAGAAAAG
Seq A exon
GTAAGTCACAAGTTGTTAATTTGTACACTCAAAATTATGAGTCCTGAATAGCAGGCTCTTTCATAAATCTTTTCATTTTATAACATATGGTATCTGAGCAAGATCATTTCAGAGTTCTTTTCCACTATCTCCTCCTACACAGTGACCAATGTCCTAAAATTATGTTTAGCTACTGTTTTGGACAGTAACCATCTAAAATCTGCTTTCTAG
Seq C2 exon
GGTGAACCTGGTCCTCGAGGTTTAGTTGGCCCTCCTGGCTCCCGGGGCAATCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204262:ENST00000374866:36
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=NA C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=FE(20.2=100)
A:
NA
C2:
PF0139113=Collagen=FE(20.2=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development