Special

HsaINT0038418 @ hg38

Intron Retention

Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94405199-94405726:+
Coord C1 exon
chr7:94405199-94405252
Coord A exon
chr7:94405253-94405672
Coord C2 exon
chr7:94405673-94405726
Length
420 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
3' ss Seq
CTTCTGTATTTCTTTCTAAGGGT
3' ss Score
9
Exon sequences
Seq C1 exon
GGTCACCCTGGAAAACCCGGACGACCTGGTGAGAGAGGAGTTGTTGGACCACAG
Seq A exon
GTGAGACTTTTTACATTGGTAGATAGCACAAACATCATAGGCCTATAAGATAGTTGCTAAAACTAGCATCAATCTAAATGACAACATAGATGTCACCCAAACTCATAACATGAATCGAAGGCATCTAATAAAGAAAAAAGCCTAGTTAAAAAAAAATGCATATACATTTTATTCATGCAAATAATGGAATATAAATGACAGCAAGCATACCATAAGCAACTAAATTGTGTTTTCTACAAATACCGTATTATTAGTTACTCACATTAGAGCAAGTTAATTTGTCACTCTGTGCTTAGAGGTATACTAGACTTTGGTTCAAAGCTTGAACTTTGATGAGAATAAATACTTTGGAGGGAAGAAGTCACTGTCTTTTTATTTATGGTAAAACATTATTCACCATCTTCTGTATTTCTTTCTAAG
Seq C2 exon
GGTGCTCGTGGTTTCCCTGGAACTCCTGGACTTCCTGGCTTCAAAGGCATTAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692:ENST00000297268:10
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=PD(7.9=27.8),PF0139113=Collagen=FE(21.8=100)
A:
NA
C2:
PF0139113=Collagen=FE(21.8=100)


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