Special

HsaINT0039271 @ hg38

Intron Retention

Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134815935-134817079:+
Coord C1 exon
chr9:134815935-134815988
Coord A exon
chr9:134815989-134817025
Coord C2 exon
chr9:134817026-134817079
Length
1037 bp
Sequences
Splice sites
5' ss Seq
ACGGTGAGT
5' ss Score
11.45
3' ss Seq
GTTCTTTCTCCCAATACCAGGGA
3' ss Score
7.49
Exon sequences
Seq C1 exon
GGTCAAGATGGTCCCCCTGGTGACAAAGGAGATGATGGTGAACCCGGGCAGACG
Seq A exon
GTGAGTCCACAATCTGGGCTGGCTTCCTGGTGGAGGTGTCAGTGTATTCTTGGGACCTTGCAGCTTGCTTGACTCATTTCTGGGAAAAACTCCAACCTAGTTGATATTGATTCCTTTATGATATCGATTCCCTTATGATATTGATTCCCTTATGATGTTGATTCCCTTATGATATTGATTCTGGACAGTGACAGAGCTCATGAACTCCCTCTGAGATGCACGTGCTGTCTCAGCAGCAGGTTTGCAGGCAGCCCCAGGGCTTCCACGACCCACCATGGGCTCGCCCGGGAACGTCAGATCTTACCCACAGCTCTGCCTAGCAGGGCCAGTGCCTCTCCTCACCAGGCCCTTCCTGCCTTACCTTGACCGAGATCACACTGGACGTTGCATCTGACGCTTGGCGTTGAGTGTTTTAAACACCGCTTCAAGCCCAGAACGTCTTTCTGGGACGGATCGACCCCCATGGGCCCTGGGCAGGACTGGGCCTGGAGGAGGCCCCTGAGGCCTTGCAGATGCCCTTGCCCCACCTTGCACCCAGCCTGGCCAAGCGCGGGGGACTGCGGACCTGAGGGCAAAGGCCATGTCACTGAGTTGAGAGGAGCGTCCACTCAGAGAAGGGGTTAGGGATCTAGCCTCGGGCTGGATTTCCCTGACAGACACCCCCAGTCCACCACTTCCCGGCCTGTGTCCTGGGACGATTCTTGTCCCCCCTTCTGTGAAAGGGGATGCCAGTGCCTCGTCCCTGCCCAGGTTGTGGTGGGGACCGAACCGTCATTGTGTATCAAGAGTCAGCACTGTGAGTGGGGAAGTTCTCTTCCAAAATGCAGAAAACCCGCAGGATGGGAGTTGGGGTTCCTTACGCTGTCACAGCCCGGGTGCGACACTGTCTTAGGACCCTCTGTGCTAGCCCCAAAAGAAGAGAGAGGCGGCCGCAGGGCTGGCCGAGGAGTAAATAGACTGAAATCGCCATGTGTTTTGCCTCAATTGAGTCTAACGGGCCCCAATTCCTCACACTCTGTTCTTTCTCCCAATACCAG
Seq C2 exon
GGATCCCCCGGCCCTACTGGTGAACCAGGTCCATCGGGGCCTCCAGGAAAAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635:ENST00000371817:52
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:
NO
A:
NA
C2:
NO


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