Special

HsaINT0038427 @ hg38

Intron Retention

Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94409723-94410295:+
Coord C1 exon
chr7:94409723-94409821
Coord A exon
chr7:94409822-94410241
Coord C2 exon
chr7:94410242-94410295
Length
420 bp
Sequences
Splice sites
5' ss Seq
GTTGTAAGT
5' ss Score
8.3
3' ss Seq
TGTTCTGTATTGAACCCTAGGGT
3' ss Score
8.24
Exon sequences
Seq C1 exon
GGCCTTCCCGGCGTTGCTGGGGCTCCCGGCCTCCCTGGACCCCGCGGTATTCCTGGCCCTGTTGGTGCTGCCGGTGCTACTGGTGCCAGAGGACTTGTT
Seq A exon
GTAAGTGGTCATGACTGTGGTTCTCATCATCCTGAAATACCACCTCTGCCATCATTTCATCACTATCTAGACTTCCACTTGTAGTTTTATTATTCCTATTTTTCTCTTCCTTAGCATTTTTAGTTTATATTTCTTATATATATATGTACACTCCCGTCTGCTATATGCACACAGACATGCCCTTCCTGTTATCTTAAATCATTACCTCAAGGTAAATGAGGCAAAGTTCTACAATATCAGTTTTGTCCCTTCGACCAATAATACCATTCCCCTGTACTCAATTTAAATATGAACAGGGTACATTTCCTAGAGAACTTGAGCTTCTCTTTACCTTGACCCACAAATATTCTAAGAGATTTGTCTGCAAGAGAGTTTCAACAAATGTTTGTCCTTTGACCACTGTTCTGTATTGAACCCTAG
Seq C2 exon
GGTGAGCCTGGTCCAGCTGGCTCCAAAGGAGAGAGCGGTAACAAGGGTGAGCCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692:ENST00000297268:19
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(14.1=36.4)
A:
NA
C2:
NO


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