Special

HsaINT0039835 @ hg38

Intron Retention

Gene
ENSG00000092758 | COL9A3
Description
collagen type IX alpha 3 chain [Source:HGNC Symbol;Acc:HGNC:2219]
Coordinates
chr20:62819929-62821216:+
Coord C1 exon
chr20:62819929-62819982
Coord A exon
chr20:62819983-62821180
Coord C2 exon
chr20:62821181-62821216
Length
1198 bp
Sequences
Splice sites
5' ss Seq
CGGGTAAGT
5' ss Score
10.75
3' ss Seq
CGCCTGCTTTCCTCCCACAGGGA
3' ss Score
12.38
Exon sequences
Seq C1 exon
GGTCTGACTGGACGAGATGGACCCCCTGGACCCAAGGGTGCCCCTGGGGAACGG
Seq A exon
GTAAGTGCCTGCGCCGAACCCAGTGGCTTGGGTTCAGAGGTGAGGTCCCCTGGCCACCTCTGGCTGCTCTGTGTCCACAAGGCCAAGGAGCTGGTAGTTCCAAGGACAGCTGCCCTGCCCGTGCCTGGGGTGGAGGGGCAGAAGGGCAGGGTGCCAAGTGGCCAGTCCCCTGTGCCTGCCTCCCTGCCTCACCTCCACGTATGGTCAGAGTTGTCCTGGTATCCAGACCATGGCAGGGAGAAGGGGGATGGTTTGGGGGAACCCACCCCAGGTGCCTCCTCAGAATGTCCCTGAAGCCCCCAGGGCCCTGGGCAGACCACCACCAGGGACCCCCGGGCACGCAGCCTGCAGAGTCCCCTGTGCCTGCCTGTTGGACACTGAATCCTTTACCCTGACGGAGCGGCACCACCACCCAAGGGTGCCTTTCTCCCCTTGTGGCTTCTGAGTACAAACCCGAAGCCAGCATTCTCTCTTTGGCTTCATAAGACGTGGCTGTCAGCCAACCGGGTGCCACTGGCCCCAGGCGCAAAGCATCACAGAGGGCAGGAAGGCTGGGCTGGGGACACGAGGACACAGCCCTGCCCTTGGGACCCTTGGGAGCTCGTCAGGCATGAGGCGGATTCTGAGCTGAAAACAGGAGGGAAACAGTAGCTGCTGGCAGCCGAGTCCGTGGTGCCCAGGGGTGTGGGGTGGGCTGGTCCCCAGGCTTTCAGGAGGGGCCTCCAGCCTCAGCACAGGGCCCGTGCGTGCCGTCCAGGGAATGAGGCATTTCAGGCAGCAGGGGCCAGACAGGGCCCAGAGGGTGTGGAGGGCAGACAGGGCCTGGCTGCCCAAGGCTCTGGGGCTCGCTGACGTGGGCGGGGGCTGAGGACTCAGCAGGCTCCGTGGGTGGGTTATCGGGAGGGCTTCCTGGTGGAGACAGGCACCCCGGGTCACTTCGGTGCCTCTCAGCCCTGCCTCAGGTTGCACCTTCTTGCAGCGAGCGCTGGGACTCTGGTGCCATCTGTCTCCAGCAGCTCCCCAGGACGGCAAAGACCCTCCAGGTCAAGAGGGCTCAGAGGCCCTGCCCCTCTGTGAAGTGGGGACTTGGACCCTGTTGTCCTGGGAGTTGGAGTTGTGACGTCACACTTCAGAGGGAGGGGATTGGGTTTGCAAATAGAGGCCCAGCCCAACCTAGACGCCTGCTTTCCTCCCACAG
Seq C2 exon
GGAAGTCTGGGACCCCCGGGGCCGCCCGGGCTGGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092758:ENST00000343916:5
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(0.1=0.0),PF0139113=Collagen=FE(27.0=100)
A:
NA
C2:
PF0139113=Collagen=FE(19.3=100),PF0139113=Collagen=PU(1.8=8.3)


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