Special

HsaINT0038963 @ hg38

Intron Retention

Gene
ENSG00000187498 | COL4A1
Description
collagen type IV alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2202]
Coordinates
chr13:110211647-110211922:-
Coord C1 exon
chr13:110211869-110211922
Coord A exon
chr13:110211674-110211868
Coord C2 exon
chr13:110211647-110211673
Length
195 bp
Sequences
Splice sites
5' ss Seq
CCCGTGAGT
5' ss Score
8.4
3' ss Seq
ACCAAAACTTTCTTTTTTAGGGA
3' ss Score
10.33
Exon sequences
Seq C1 exon
GGGGAGAGAGGGCCGCTCGGGCCTCCTGGCTTGCCTGGTTTCGCTGGAAATCCC
Seq A exon
GTGAGTAGAGGTTATTTAGGGCAGAACTTCTTTCTTTTAGTTATGACTTCTCTCTTTTCATTCCATTTCCTTTTCTTTCTTTCTTTGCTTATGTTTTAATAACTTATATTTTATATATAATATTACATGATAACAATTTTAATGCTAATGATATTTTGAGAAAAACAAAACTAACACCAAAACTTTCTTTTTTAG
Seq C2 exon
GGACCACCAGGCTTACCAGGGATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187498:ENST00000375820:7
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(10.3=44.4),PF0139113=Collagen=FE(25.8=100)
A:
NA
C2:
PF0139113=Collagen=FE(12.1=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


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