Special

HsaINT0038425 @ hg19

Intron Retention

Gene
ENSG00000164692 | COL1A2
Description
collagen, type I, alpha 2 [Source:HGNC Symbol;Acc:2198]
Coordinates
chr7:94038634-94038920:+
Coord C1 exon
chr7:94038634-94038732
Coord A exon
chr7:94038733-94038875
Coord C2 exon
chr7:94038876-94038920
Length
143 bp
Sequences
Splice sites
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
3' ss Seq
TCCTTTCCTTTTCCTCATAGGGT
3' ss Score
11.22
Exon sequences
Seq C1 exon
GGTGAAATTGGAGCTGTTGGTAACGCTGGTCCTGCTGGTCCCGCCGGTCCCCGTGGTGAAGTGGGTCTTCCAGGCCTCTCCGGCCCCGTTGGACCTCCT
Seq A exon
GTAAGTAGCCACTGTCTTTAAACTTTATTGAGTAAAAGAAAACAAAGGTGGAGTATGGGGAAGAAGAAGAATGAAGATGGGGTCAAAGAAGAACCGAAATATTCCAATTAACTGATATCCTTCTCCTTTCCTTTTCCTCATAG
Seq C2 exon
GGTAATCCTGGAGCAAACGGCCTTACTGGTGCCAAGGGTGCTGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692-COL1A2:NM_000089:17
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(1.2=3.0),PF0139113=Collagen=FE(37.6=100)
A:
NA
C2:
PF0139113=Collagen=FE(16.5=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGAAATTGGAGCTGTTGGT
R:
GCACCCTTGGCACCAGTAAG
Band lengths:
140-283
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