Special

HsaINT0038430 @ hg19

Intron Retention

Gene
ENSG00000164692 | COL1A2
Description
collagen, type I, alpha 2 [Source:HGNC Symbol;Acc:2198]
Coordinates
chr7:94039732-94040254:+
Coord C1 exon
chr7:94039732-94039839
Coord A exon
chr7:94039840-94040200
Coord C2 exon
chr7:94040201-94040254
Length
361 bp
Sequences
Splice sites
5' ss Seq
AGAGTAGGT
5' ss Score
4.84
3' ss Seq
TTTCATGTACTTTCTTGCAGGGT
3' ss Score
10.58
Exon sequences
Seq C1 exon
GGCTCTGCTGGGCCCCAAGGTCCTCCTGGTCCCAGTGGTGAAGAAGGAAAGAGAGGCCCTAATGGGGAAGCTGGATCTGCCGGCCCTCCAGGACCTCCTGGGCTGAGA
Seq A exon
GTAGGTTTCAAATGCTCCCAACACCCTAACACACCAGAGGCAGATTATGATACCCCTTCACTGGGAATTGGTCAAAATTACTGACTGTGTTTTCTTAGGCAAAAAAAGCATCTGCTTTCCATCTGCCTTATTAAATCAGTGACTCTCAATTTAATATGTTATAAAATTGGCCTGGAAACAATGTTGACCTACTTTTGCAGGATGCTCATCTATGAATTCCTCTAGGGGTTGGGTGAAGTGTTTTGGCTTGGTTTGTGTCTGTATCTCCCCTGTAAGGAGATCATGCTATTTTTTACAAACTCTACCTTATCAAAGCCAAGAGATTTCTTTAATTCTCTCTATTTCATGTACTTTCTTGCAG
Seq C2 exon
GGTAGTCCTGGTTCTCGTGGTCTTCCTGGAGCTGATGGCAGAGCTGGCGTCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-COL1A2:NM_000089:21
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:
NO
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