Special

HsaINT0038870 @ hg38

Intron Retention

Gene
ENSG00000168542 | COL3A1
Description
collagen type III alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2201]
Coordinates
chr2:188992184-188992940:+
Coord C1 exon
chr2:188992184-188992228
Coord A exon
chr2:188992229-188992886
Coord C2 exon
chr2:188992887-188992940
Length
658 bp
Sequences
Splice sites
5' ss Seq
CCAGTAAGT
5' ss Score
9.09
3' ss Seq
ATTGTATTTAATTTTTTCAGGGC
3' ss Score
8.24
Exon sequences
Seq C1 exon
GGTGCTCGGGGTAATGACGGTGCTCGAGGCAGTGATGGTCAACCA
Seq A exon
GTAAGTAACTTTCTATCTCTTATGTGTTGTAGGGTAATGAGAAGTTATGGATTGTGGATTATTTAATATTTTATATATGTATATACTCTTAGGTATATATATATGCATATGTATATCTCTAATATACACATTAGCATCTCTGTTGACCATTTTTACAATTTAAAAAGTGAAAAAATATTGTAGCCCCAATACTTAATATTGTATATACACTCCTGTGATTAAAACTGACACTGAGCCCATAAACAAAATCTAGGTTCTGACACTCATTCTGCTTGATCAACTGCTAACATTTGAATGGTGCTCCCAATGTTAGTTAATATCCTATGTAAGACATGGCACTTTAAAGAGTCCTACAAAATGGATAAAATAGATGTTACCTCCATTTTGTAGACTGGAGTACAAAAGCCCAGGGAAAAGTAGCCTGCACTAAGTCACAGAATTCATGGCAAAGTAGGGAGAAACCAAGAATTTCTAACTTTAGATTTCACTCTTTTCTTATTTTACCACATTGTTTCTCTACATAATATCCATAAAATATGAATATCATTTTTATCTGCATAAATATCTTCTTTACTTTATATGTGCTCACTTATTTACTAGTATGTCAGCTTTCATTTAGTTGAAAAAGAGCTCTTGAAATTGTATTTAATTTTTTCAG
Seq C2 exon
GGCCCTCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168542:ENST00000304636:14
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(9.6=60.0),PF0139113=Collagen=FE(18.7=100)
A:
NA
C2:
PF0139113=Collagen=FE(32.1=100),PF0139113=Collagen=PU(29.3=89.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
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