Special

HsaINT0039003 @ hg38

Intron Retention

Gene
ENSG00000134871 | COL4A2
Description
collagen type IV alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2203]
Coordinates
chr13:110503383-110503993:+
Coord C1 exon
chr13:110503383-110503481
Coord A exon
chr13:110503482-110503846
Coord C2 exon
chr13:110503847-110503993
Length
365 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
3' ss Seq
CCTCTCTGTTTCCCTTCCAGGTG
3' ss Score
14.5
Exon sequences
Seq C1 exon
GGCCCAGGGGTGAACAAGGCTTCATGGGGAACACTGGACCCACTGGGGCGGTGGGCGACAGAGGCCCCAAGGGACCCAAGGGAGACCCAGGATTCCCTG
Seq A exon
GTAAGTGACCGTCTGGTATCTTCAGAGCTAGTGGCTCAGCCCAGCCTCTCCAGGCTTGGGGACATCCTGGAGGTCAAACGGCCAGGATCCTCTCTGGCATGGGTCACATGTTGTAAAGAGCAGGGAGGAAACCAAGGCTGTGCCTCGGATGTTGTCACAGGACCTTGGGGAATGGAGAGCTTAATATTCAAACGGCAGGCGCTGAGTCACGGCTCAGGCCCGTTAGTGTCTGGCTCATCTCTAGAAAGCACAGTTGTCTGGGAAGCTCCAAAAGAAGCCTCCCTGGTGAGAAACGCAGTAGCACTCGGAGCAAGAGAGTGGAACGACCTTGTGTGTTTACTGGGGCCTCTCTGTTTCCCTTCCAG
Seq C2 exon
GTGCCCCCGGGACTGTGGGAGCCCCCGGGATTGCAGGAATCCCCCAGAAGATTGCCGTCCAACCAGGGACAGTGGGTCCCCAGGGGAGGCGAGGCCCCCCTGGGGCACCGGGGGAGATGGGGCCCCAGGGCCCCCCCGGAGAACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000134871:ENST00000360467:43
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(50.8=100)
A:
NA
C2:
PF0139113=Collagen=PD(24.6=32.0),PF0139113=Collagen=PU(58.5=62.0),PF0139113=Collagen=PU(10.8=18.0)


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:
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