Special

HsaINT0039322 @ hg38

Intron Retention

Gene
ENSG00000204262 | COL5A2
Description
collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210]
Coordinates
chr2:189098727-189100139:-
Coord C1 exon
chr2:189100107-189100139
Coord A exon
chr2:189098760-189100106
Coord C2 exon
chr2:189098727-189098759
Length
1347 bp
Sequences
Splice sites
5' ss Seq
GTTGTAAGT
5' ss Score
8.3
3' ss Seq
TTTTCTTGTTTATTGTTTAGGTA
3' ss Score
9.93
Exon sequences
Seq C1 exon
GGACAAAAGGGAGAACCAGGATTAGTGCCTGTT
Seq A exon
GTAAGTATATGTATAATCATTGTTTCCTTGTACCTTAAATAAACTTAGCTTATAGTATAATTGTATATTATTGCTTATGTACATACTTTCAAAAATAAATTAGTTATTTTAAAAACAAGTTTTTAGTATAACACAAGCAAACCAGAACAGATTAGTTATTTAATACAATATTTGATATTCTGTGTTCCTGACTTTTATAGTCCCATGACTAAAGGTAGAAAGTCATTGTTTTAAAAAGTTAAATATATTACATGTGGATATACACTGATAGTTAATATTAGTACTAGTTAGTATAGTAGTTTATTATTCCACACTTCTGGAAATACATCATGCCCTGATCCTGAGCAAAATTCCCTGTTGCATAAGAATTCCTAAGACTTCTTTAAACTTGTAAATGGATCAAGAAGTATGTTACTAAACAGGATTAAAGCTCTTCAACTGTCGTTCTGTCAGGTTTCATTATTTTTTATTTTTATTTTTTTGAAACAGAGTCTCGCTCTGTTACCCAGGCTGGAGTGCAGTGGCACAATCTCAGTTCACTGCAACCTCCACCTCCCAGATTCAAGTGATTCTTGTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCAAGAGCCACCATGCCTGGCTAAATTTTGTATTTTTAGTAAAGACGGGGTTTCACCAGTTTGGCCGGGCTGGTCTTCAACTCCTGACCTCAAGTGATCCACCCACCTTGGCCTCATTCTCCTAAGTTTTAAAGGTGTTATCATCAGTCTGTCAAGACAAAAAGAATATGCATGTTGATTTATTTAGCAGTGTTTACATTCTCTATTTGCCTTTAATTGGCTTGTTTTTTTAACGAAGATTACCTAAAACTTAAATAATTCATATTGTTTTATTTAATTTTAAAAAGCATTTATGTGTGCTTACTATGTCTTAGGTGTTAAGTGCTTTACAAATACAAATATTTATTTATTTGTCTTCATAACTCTATGAGGGAGGTAATTACCTAATCATCACTACCATTTTACATTTAAGTTTCCACTTAAGATCCTTAAGAACAGAGAGGATAAGTAATTAGTCCAAAGTCACACATCTGGTAAAGGGTAGTGTCGGGATTTGAACCCAGGCCCCTTGGCTCCAGTGTTGGTGCTCTTTATCATTACGCCAGCACTGCCTCCCTATATTAGTTAAAACTAGATAATATCTTAAATCTTAAGGAGAGGAGGAAATGGTCATCAATTGACAACATCCATTTGTTAAAAAAATTACTGTGGTTTTTGTTGTTATTCTTATTTGTTACTATTGACCTCTCTGAATATCTGCAGAAACTTTACCTTTACAAATTTTCTTGTTTATTGTTTAG
Seq C2 exon
GTAACAGGCATACGTGGTCGTCCAGGACCGGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204262:ENST00000374866:4
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:
PF0139113=Collagen=PU(14.3=81.8)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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