Special

HsaINT0038862 @ hg19

Intron Retention

Gene
ENSG00000139219 | COL2A1
Description
collagen, type II, alpha 1 [Source:HGNC Symbol;Acc:2200]
Coordinates
chr12:48389658-48390408:-
Coord C1 exon
chr12:48390331-48390408
Coord A exon
chr12:48389703-48390330
Coord C2 exon
chr12:48389658-48389702
Length
628 bp
Sequences
Splice sites
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
3' ss Seq
CATTTTCTGTTCCGATGCAGGGC
3' ss Score
9.2
Exon sequences
Seq C1 exon
AACTTTGCTGCCCAGATGGCTGGAGGATTTGATGAAAAGGCTGGTGGCGCCCAGTTGGGAGTAATGCAAGGACCAATG
Seq A exon
GTAAGAAAAGACACTAGTTCTTTGCAGCCAAAATGGCAGGAGGTGGCCCTTAGCAGAGCCAGAGAGTCTGACAACCTCTGCTTTACAGATAATTGCTTAGAGTGGCTCTCCTCCGTAGTTATGTAACCTCCCATTCAGCTAGCCCAAAGCATTTGGTTTTTAATGGCAATGGATGCCACTTTTAATGATGCGCTGGAGTGACTAAGAAGAATGAAGATGGGGAGATGCATATAGGCTGATCTGTTAGAAGACCAGTTGCTATTGCTCTTGGAATGAGAACTGAAGAATGCAGACAGCAGCTACTGTTCTCCAGCATCCACAGACTTCCAGCAGGAAATCTCAGCCCGCAGCTCTGACTTGGCACATGCTAAATGAAACTCAGCCTTTAGTAAACATGGCTGCTGTCCAGGAGAAAGCAAGGCCAGCTTTTCTGTCCAAATGGTGCCTATAAATAAAAATAGAGTGTTGCGTGGGGAGTGGGAAATGAGAGGGAGCAGCCACTCTAGGCCCCTTGCCCACAGAGTAACTTCTTGTCCTTTGCCCGGGCTGTTGGCTGGGAGAAGATGGCACACTGGAGGCCACTGAGGAAGCATGTGTAGTAAACCCCTCATTTTCTGTTCCGATGCAG
Seq C2 exon
GGCCCCATGGGACCTCGAGGACCTCCAGGCCCTGCAGGTGCTCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139219-COL2A1:NM_001844:8
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=PD(6.1=15.4),PF0139113=Collagen=PU(6.5=15.4)
A:
NA
C2:
PF0139113=Collagen=FE(22.6=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
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