Special

HsaINT0039304 @ hg19

Intron Retention

Gene
ENSG00000204262 | COL5A2
Description
collagen, type V, alpha 2 [Source:HGNC Symbol;Acc:2210]
Coordinates
chr2:189929730-189931223:-
Coord C1 exon
chr2:189931116-189931223
Coord A exon
chr2:189929784-189931115
Coord C2 exon
chr2:189929730-189929783
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-COL5A2:NM_000393:23
Average complexity
IR-S
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(41.2=100),PF0139113=Collagen=PU(5.3=13.9)
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:
NA
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