HsaINT0038334 @ hg38
Intron Retention
Gene
ENSG00000082293 | COL19A1
Description
collagen type XIX alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2196]
Coordinates
chr6:70144918-70146703:+
Coord C1 exon
chr6:70144918-70145007
Coord A exon
chr6:70145008-70146658
Coord C2 exon
chr6:70146659-70146703
Length
1651 bp
Sequences
Splice sites
5' ss Seq
CCAGTAAGT
5' ss Score
9.09
3' ss Seq
TCATACTTTTTTTCTTTTAGGGA
3' ss Score
11.41
Exon sequences
Seq C1 exon
GGAGATCCGGGTGGGATCATAGGCCCTCCCGGGCTTCCAGGTCCAAAAGGTGAGGCTGGTCCTCCAGGGAAAAGCCTGCCAGGGGAACCA
Seq A exon
GTAAGTATTAGCCCTTTTGTTAATATTTTTCTTGCAAGTTCATTAATTACTACTTGTGGGTTCCTAGTTTCAGATCACAAGTATGGGAATAAGTTTAGGTCTGCAAAAAAAGGAAAAAAGAACTTAAAACAGAACTACCATTTGACCTAGCAATCCCACTACTGGGTTTCTTTTCCCAAAAGAAAATAAATAGTTCTACAAAAAAGACAGATGTATTCGTATGTTCATTGCAACTCTATTCATAGTAGCAATGAGATGGATTCAACCTACATGCCCATCTACAATAGACTAGATAAAGAAAATGTGATACATACAACCATGGAATACTATGCAGCCATAAAAAGGACAAAATCATGTCCTTTGCAGCAACATGGATATAGCTAGAGGCCATTATCCTAAGCAAATTAATGCAGAAACAGAAAACGAAATACTACATGTCCTCACTTATAAGTGGGAGCTAAACATTGGTTGCACACCAACATAGTAGAGATGGGAGCAAAAGACATGGGGGACTACTGATGGGGGAGAGTTGAAGGGAGGCAAGGTTGAAAAACTGTCAGGCACTATGCTTACTTCCTTGGGTAGTGGGATCATTCACACAATAAACCTGAGCAACATGCAATTTACTCATGTAATAAACCTGTACATATACCCCTGAACCTAAAATAAAAGTCAGGGGAAAAAAGAAATATTCATCTATTCATCTTATTGTTTCTTTTTTTTTTTTTTTTGAGACAGGGTCTTAATCTGTCACCCAGGCTAGAGTGCAGTGGTACAATTATGGATCACTGCAGCCTCCACCTCCGGGATTCAAGTGATCCTCCCACCCCAGCCTCCTGAATAGTGGTGACAACAGGCACACACCACCAAGCCTGGCTGATTTTTATATTTTTTGTATAGATGGGGTTTCACCATGTTGTCCATGCTGGTCTTGAACTCCTGAGCTCAAGTGATCTACCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGACATCTTACTCTATAAATCAGAGATAAAACCTCTTAAAAGTTTGATAAGCAAAGGGCTTTCTTCTGAAGAAAATATACATGCATACAACATTTTGCATATGATTTTGGAAGATTCCTAGGTCCCCTGAATCCTAGGCATGAATTCTGTAGAGATCTATGGATCCCAGTCAGGTACACTGGTTTTAAAACATAAACGTTCCTAGGGCAGTATTGTAAAACAGAAAAACTACCTGAAATTTCTCTTCCAGAGGTTTTGCAGATATCATCATGGTTTGTCATTTGCAGAAAATGTCTTTGTGACCCAGACTATTCCCAGGACATTGAAAACTGGACTGCCGGAAAATCTAAATAACCAATGTTTTTAAAATATGTTTTATATGCCTTTGTTTTTCATCTCCTTTGAACTTTTTATGTATTAAATAATAATAATATTTCTCAATATCAGGTGCCTCATTTTATAAATAAAAATATTTTATATTTTAAAGCAACTATACAAAATCTATAACATATTGAAATTTTTACTCCCCGTTCCTTATTCTTTTATAGAAAAAGATTTATTCAAGCAAGATGAAGAGTGATGAAACATATTTTAGTTATAACTTCTAATGTGTTTATAACTTTTCTAGAAGAAGATATGTATTCATACTTTTTTTCTTTTAG
Seq C2 exon
GGATTAGATGGAAATCCTGGAGCACCTGGTCCACGTGGGCCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000082293:ENST00000620364:25
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(30.0=80.0),PF0139113=Collagen=PU(39.1=83.3)
A:
NA
C2:
PF0139113=Collagen=FE(21.9=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
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
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development