Special

HsaINT0038413 @ hg19

Intron Retention

Gene
ENSG00000108821 | COL1A1
Description
collagen, type I, alpha 1 [Source:HGNC Symbol;Acc:2197]
Coordinates
chr17:48275522-48275865:-
Coord C1 exon
chr17:48275794-48275865
Coord A exon
chr17:48275567-48275793
Coord C2 exon
chr17:48275522-48275566
Length
227 bp
Sequences
Splice sites
5' ss Seq
ATGGTGAGC
5' ss Score
8.27
3' ss Seq
CCTTTCTTCTCCCTCTATAGGGT
3' ss Score
12.36
Exon sequences
Seq C1 exon
AACTTTGCTCCCCAGCTGTCTTATGGCTATGATGAGAAATCAACCGGAGGAATTTCCGTGCCTGGCCCCATG
Seq A exon
GTGAGCCAGCAGGGGGAGCATGGATGACAGAAGAGAGAATGGGTATCCAGAGGAGGTGGGCATAGGCGGCTGGTATAGACAGCTTGGGAGGTCCAGATCACCTTTGGGACCTCAGAGTCCAGAAAGGATGCAGGACGACTGGGTGGTCCCAACAGGCATGAATGACTACATCCACATGCTTTCCTACAGAGGGATCACCATGACCCCCCTTTCTTCTCCCTCTATAG
Seq C2 exon
GGTCCCTCTGGTCCTCGTGGTCTCCCTGGCCCCCCTGGTGCACCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108821-COL1A1:NM_000088:6
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(8.8=20.8),PF0139113=Collagen=PU(6.5=16.7)
A:
NA
C2:
PF0139113=Collagen=FE(22.6=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
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