Special

HsaINT0038776 @ hg38

Intron Retention

Gene
ENSG00000196739 | COL27A1
Description
collagen type XXVII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22986]
Coordinates
chr9:114205759-114206296:+
Coord C1 exon
chr9:114205759-114205812
Coord A exon
chr9:114205813-114206251
Coord C2 exon
chr9:114206252-114206296
Length
439 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCAG
5' ss Score
4.95
3' ss Seq
CTCTGTGTTTTGTGTTTCAGGGG
3' ss Score
12.38
Exon sequences
Seq C1 exon
GGGCAGCCAGGACCTGAGGGCAGCCCAGGGGCCAAAGGTTACCCTGGCAGGCAG
Seq A exon
GTGCAGTATATGGCTTCTGGAAGCTCTGTGGCCATGGTGATGTGAAGATGGCCACAGGTGCCCCGAGGCAGAGGGAGGTGGTGGGCTGGGGGCCAAGGAGCTGCACCTGCTGGGTGGACCCTAAGGAGGGGGCTTTCCAGGGGACTGGACCAAGGAAGCCTGTCTTTGCAGGCACAGGATAAGGCTGCATAGTAAGAGGAGGTCTGGTTCTGCGGGGCTGGGGCTCCAGAGGCTCCTCCTACTCAGTCTCCCTCCTACCCACCAGCCACCTCCCTGGGATCCTAGGGCTGTGGGGGTCAGGCCAAAGATCGCTGATCTAACCCCACCCCCATTCTACAAAGAGAGCAGCAGAGGCCCCAAAGAGGCAGGACTTGCCCCAGGATTGGCAGCAGGTAGAGCGTCTCCATATGTCCTTGCCCCTCTGTGTTTTGTGTTTCAG
Seq C2 exon
GGGTTACCTGGACCGGTAGGAGATCCCGGCCCCAAAGGCAGCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196739:ENST00000356083:9
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=FE(26.2=100),PF0139113=Collagen=FE(22.1=100),PF0139113=Collagen=PU(11.6=44.4)
A:
NA
C2:
PF0139113=Collagen=PD(5.7=33.3),PF0139113=Collagen=FE(18.4=100),PF0139113=Collagen=PU(17.5=73.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Other assemblies
Conservation
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