Special

HsaINT0039304 @ hg38

Intron Retention

Gene
ENSG00000204262 | COL5A2
Description
collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210]
Coordinates
chr2:189065004-189066497:-
Coord C1 exon
chr2:189066390-189066497
Coord A exon
chr2:189065058-189066389
Coord C2 exon
chr2:189065004-189065057
Length
1332 bp
Sequences
Splice sites
5' ss Seq
AGGGTAAAT
5' ss Score
5.83
3' ss Seq
CACATTTTGGTCATTTGTAGGGT
3' ss Score
8.36
Exon sequences
Seq C1 exon
GGGCCACATGGTATTCAGGGTCCGATAGGCCCACCCGGTGAAGAAGGCAAAAGAGGTCCCAGAGGTGACCCAGGAACAGTTGGTCCTCCAGGGCCAGTGGGAGAAAGG
Seq A exon
GTAAATTTAAATAATACAACACATTCTTACAGTTGTGAGGGAATTATGTGTGTAAGTCTGAGAACAGTAAGGAAAACTAGAACAGTTAAGAGAAATGCTTGCAGGTTCCCTGCACAGTTCAGTACAGTTATGTGCAAATAGAAAGAGCCAACTGACTAATCATTATTCATACATTCAACTAATATTGGTTAAATCACTAGTCTATGCCAATTTGAGCCATCTGTGCTTGGAATTATATCAGTGAACAAGAAGGCTATGGTCCTAGTCCTCATGTGGAGACTAGTAAATAGTTGTTTATTTTAGTGGAGAGGTAAACAATAAACAAGTCAATGGGTAAATAAAAATATATGTACACACTTTAAAAAATGCCATACACACACTAAGTAAAGACATGACACATTGGAGAGTAACTACACATATATGTCAGTGTTGTAATGTTAGATTAGGTGGTTAGGAAAGAGGATCCTCTGAGAAGATAGCATTTTAGCTGAGACCTGAAGATGATGATAAGCCAGTAGAAAACTTGGAAGGAAGAACATTCTTAGCAGAGGAAAAAGCAAATGCAAAGCTGGGAGGGCAGAAAGGACCTGGTGATTTTAAAGACCAGAAGAGGTAGCTGTGACTGGAGCACAGTGAGACAGGTCTGAAAAGAAGAACAGTAATCTCACATTTATCTAGAGCTTTGGAGAATGCAAAGCGTTTCACAAAAATGTCACTAATGCATGTCATTGTTGACATTTTAATTGCTATAGATGGTACCTATGCCTCTCATCTCTAGATATCAGTTTTCTCTGTTTAATTTTACTATGAATCGTTAGAATATTTCCTTGCTTCCTTCCTTCCTTTCTTCCTTTTTTTTTTCTGACATAGTCTTGCTGTGTTGTCCAGGCTGGAGTGCAGTGGCACCATCTTGGCTCACTGCAACCTCTGCGTCCAAGGTTCAAGAAATTCTTGTGCCTCAGCCTTTTGAGTAGCTGGGATACAGGCACTTGCCACTATACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCAGAATATTTCTTGATTTGAGGAATTATTTGGCTCAGTACTTATATATTCTTCAAAATTTTAAAGTTTTTCCATCGAGTCAGATTTTTCTCATGCATATCTATAGCCATGTTGGCTTGATGATGGCTCCTAAAACTTTATAGTGCTAAAAATAAAAATCACCTATTCATTACATATTGCAAAAATATCAACAACAATTAAGAATCACATTTTGGTCATTTGTAG
Seq C2 exon
GGTGCTCCTGGCAATCGTGGTTTTCCAGGCTCTGATGGTTTACCTGGGCCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204262:ENST00000374866:23
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(39.8=100),PF0139113=Collagen=PU(11.3=30.6)
A:
NA
C2:
PF0139113=Collagen=FE(20.0=100),PF0139113=Collagen=FE(17.9=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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