Special

HsaINT0038940 @ hg19

Intron Retention

Gene
ENSG00000187498 | COL4A1
Description
collagen, type IV, alpha 1 [Source:HGNC Symbol;Acc:2202]
Coordinates
chr13:110830189-110830578:-
Coord C1 exon
chr13:110830411-110830578
Coord A exon
chr13:110830279-110830410
Coord C2 exon
chr13:110830189-110830278
Length
132 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
3' ss Seq
GTCCTTTCCTTTGGCCACAGGTT
3' ss Score
9.65
Exon sequences
Seq C1 exon
GCCCTCCTGGAATAAAAGGAGAGAAGGGTTTCCCCGGATTCCCTGGACTGGACATGCCGGGCCCTAAAGGAGATAAAGGGGCTCAAGGACTCCCTGGCATAACGGGACAGTCGGGGCTCCCTGGCCTTCCTGGACAGCAGGGGGCTCCTGGGATTCCTGGGTTTCCAG
Seq A exon
GTAAGTGATTTTTGAACTTCTGCCTGGATCCATCATGAAGACATGGGCCTCACCTTATTCTTTTTATGACTCAGCATTTACTGTCAGCATTCAGAGCAAGAAAATGTTCACAGTCCTTTCCTTTGGCCACAG
Seq C2 exon
GTTCCAAGGGAGAAATGGGCGTCATGGGGACCCCCGGGCAGCCGGGCTCACCAGGACCAGTGGGTGCTCCTGGATTACCGGGTGAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000187498-COL4A1:NM_001845:32
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(28.8=29.8),PF0139113=Collagen=PU(65.0=68.4)
A:
NA
C2:
PF0139113=Collagen=PD(33.3=64.5),PF0139113=Collagen=PU(39.0=74.2)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TCCTGGAATAAAAGGAGAGAAGGGT
R:
GGTAATCCAGGAGCACCCACT
Band lengths:
243-375
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