Special

HsaINT0039832 @ hg19

Intron Retention

Gene
ENSG00000092758 | COL9A3
Description
collagen, type IX, alpha 3 [Source:HGNC Symbol;Acc:2219]
Coordinates
chr20:61468435-61470113:+
Coord C1 exon
chr20:61468435-61468617
Coord A exon
chr20:61468618-61470035
Coord C2 exon
chr20:61470036-61470113
Length
1418 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
3' ss Seq
GTGTCCACACCTCGTGACAGGAA
3' ss Score
4.84
Exon sequences
Seq C1 exon
AACAAATTGCACAGTTAGCCGCGCACCTAAGGAAGCCTTTGGCACCCGGGTCCATTGGTCGGCCCGGTCCAGCTGGCCCCCCTGGGCCCCCAGGACCCCCAGGCTCCATTGGTCACCCTGGCGCTCGAGGACCCCCTGGATACCGCGGTCCCACTGGGGAGCTGGGAGACCCCGGGCCCAGAG
Seq A exon
GTGAGTGTTTGACCCCATGACACGGTCACCCTGCTGTAAAAATCCCTGAGACTGACTTGTTAGTAGGCGCTGCTTCTGGTGCCTGCCATGCGCCCTCAGGGGTAACCCCTGGAACGTGGGGGCCTCTCATGTTTTGGGGCCTAGCGCAGTTAACTCCTTGGTAATCCTGTGGGAACTGGAACATTTTTAACATGTGATGTTTTTCTCAAATACCATTAGAACAATATTTGGCAGGGAGGGATTGATTTAAAATGTGACGAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGGGGCTGAGGTGGGCAGATCACGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCTGAAGGCAGAGGTTGCAGCGAGCTGAGATCGCACCATTGCACTCCAGCTTGGGCGACAGAGCGAGACTCCGTCTCCATAAAAGAAAAAAAAAATGTGAGGAATGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGACGAGGCAGGTGGATTACTGGAAGTCAGGAGTTCAAGACCAGCCTGGTCAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAATTAGCCAGGCAAAACACAGATGTAAGATTTGAATGACGCAATTAGAGGGATGTGAAAATGCCCTTAGGTGAACCATGGGTGGAAAATCATTTAAAACATGATTACAAAATATTAATAAATACTCAACTGCTTAATAGGCATAAATATTTTGAACAAAACTAAAATCCCATTTAAATTGGCTGCCAGAGGTCAGGGAGGTGGTTCAGCCGTGCACGGCTCAGCAGCAGGCATAGGTTCTGACGGCTGTGCCACTGGGCGGTTTCACTGTGGAACATCTGAGTTCACTTACGCAAGCCCGGCCTCCTGCACCCCTGGGCCGTGTGCCAGAGCCTGGGGTTTATGGCTGCAGACCTGCACAGCCTGTTACTGGGCTGGGTCTTGTGGGCGGTTCTAACCTGGTGGTGGGTATCTGTGTTAAATACATCCAAACACGGGAAAGGAATGGTAAAAATTGGGTATGATAATCTTAAGGGACCACTGTCACCTATGCGGTGCGTCGTCCACCTGCAGCCGTCCTGCAGTCTAAGACTGTGTACAGGTGGGTCCCTCTCGTCGGACCCCGTCAAGCCCTACGCGTGTGACATCTGTACTTTTCTAAATGTTTCCACTTCAGTGAAAAGCTGGCACCCTGTTTGTTACAAAGGTTGATCAGACACCGCTGTGGTGTGGCTGCAACAGATACTCTAACCATATGTCTGTGTCCACACCTCGTGACAG
Seq C2 exon
GAAACCAGGGTGACAGAGGAGACAAAGGCGCGGCAGGAGCAGGGCTGGACGGGCCTGAAGGAGACCAGGGGCCCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000092758-COL9A3:NM_001853:30
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=PU(75.8=75.8)
A:
NA
C2:
PF0139113=Collagen=PD(22.6=51.9),PF0139113=Collagen=PU(23.8=55.6)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAATTGCACAGTTAGCCGCG
R:
GGCCCCTGGTCTCCTTCAG
Band lengths:
254-1672
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