HsaINT0038327 @ hg38
Intron Retention
Gene
ENSG00000082293 | COL19A1
Description
collagen type XIX alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2196]
Coordinates
chr6:70137685-70140989:+
Coord C1 exon
chr6:70137685-70137747
Coord A exon
chr6:70137748-70140953
Coord C2 exon
chr6:70140954-70140989
Length
3206 bp
Sequences
Splice sites
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
3' ss Seq
TTTCTACCCCTTCTCCTTAGGGA
3' ss Score
10.39
Exon sequences
Seq C1 exon
GGTGAAACTGGACTACCAGGATTTCCAGGGTCTGTTGGCCCTAAAGGACAAAAAGGAGAACCT
Seq A exon
GTAAGTATTTTAGCTTTGAGGACAGAGGAAGAATATCTAAAAAACGGGATTAAAAATACGTTTCCAAATCAGCCCCAATTCCACGTGCCTTGGTTGATCCTGTCATGGGAAACAACAGATCAGATCTTCAAGCAAGTACTAGCTACGCTATGCACTAAGTCTCTTACATGTATTTACACACTTAATCCATAAAAAGTTTCCATAAGGTCATCTATTATCACCTGCATACTTCAAATGATGAAAGTAAGGCATAAAGAGGTTAAAAAACTTTGCCCAAAGTCACACAGTACTAAGCATTGGAGCTGTGAATCACACCTAGGTGAGTTGATTCTAGAACCTAAAGTTTAAAATCACAAAGCTCCTCTGGTATAACTAAACACTGCAGCTAAAATAATAAAATCAATGTATCAAAAGACTAGTACAAATTTATCCAAAAGAAATTGGAAACACATCTTTCTGCTCAAACAACTGTTCTCAGTGTACCTTCTGAAGTTATTTTTCTTTCTTGATTTTTGTATGATCAAAGTGGCTTCCCAACCACTTTTTGGTATTACTGTGGCCAGTTTCTTTCAAAATGTAGTTCTTTTTGTGGGGAAAAAGAGAAAAACCCTACAGTATCATTTATATTCAAATAGGACCACCTAAAGTGATTAGAGAAATCATAGGTACAAAAAATGACTTGTTTTAATGCTTCTTTTAAAAAAGCAGTTTTCAAGAATCAGTGAGAATCAGGCTTAACAAATGTTTCATCTTTGTTTAAAGAAAAGTAATACATCTTATTAAACCACTCTACCCCTTTCTTTACGAGACTGAATAAAGGATATTGGTTTATCAGGGGATAAAACATGAAGAGGTCACTAAATTGCCTGCATGACAAACAGGAACATTATTTAAAGTATTCAGTGTTACAAAGCCAAATTTTCCCTATGCTTCAGCTTTAAAAAATTAACAATGACAGTAATTTTTGCAGCTTTAGAATCAGTCTGTGGCCTATGTACCCCAGTTCTTCTACCTTCAGGAGTCGTGCTTGCCCTTAGTATTCAGTTCAAGCCTTCTTACACAACTACAGGATTTGGCAGTCTTTAATGAGGTTCTCCAACTGAGTATTTGCAATAATGTCTGGAAAATCTCATGTCTCAGAAATCCAGCCTGGTGCATGCCCCTGGTACCTGCCAACTCTCTAGGTGCTCCACACTTGGAGGTTCCTCTTACCATCTCTTAGCTGCTTCTCTAGGTCTCCACTGTCTTCCCTCCAAACCTGAACACTGACACCAACCTTCTCTTAATTTCCACATGATGCATGGAGGACCCTGCAGTAAGATTAATAAAAATTTTACTGGAAAATCGAGGATTTTTAGAGCAGAAAGGAGAAACTTTCAGTGAGTTAGAGCGGTGCTTCTCAAATGTGAACATGCACTTGAATCCCACTGATTCTAAGTCAGTAGGTTTGGAAGCAGGACCAGAGAGTCTGTGTTTCTCATAAGCTCTCAGTAATGCTGGTGTTATTGGTCCATGGACCACACTTTAAGCAGCAAGGGTTGAAGGAGTTCATAGTTCCTAGGAGTCATAGGCCTTTTCCTCCTGCAGGGATTTCCTCTGGCTTTCTTTCTGGCTAACTTTCAAGGGCAGTCCATGTATCTCATGAGGACTGCCTTTAGCCCTGTTTTCCTTAAATAGAGCTTCTTTTCCTCCTAACTCTTCTCCATACCAGGTCCCTATTCATCCCTTAATTATCCCACCACCCCATACATCTTTACTTGCCACCTTCCTCTACCCCTACATTAAAACAACGCAAATTTTACATTATTACGGAGAGCAGTTTAGCTTTTTATGGTCTCAAACTTTCTCTTCCAGAACAGGATGTAGACTTTACTTTGCATAATAATCAGAAGGCCCAAACAGAAGAGTAGTATTCATTCAAAGGTAAATTCTGAACCACTGATCCCGAATGGTAACTAAAATGGCAAATTTTCCCCCACCATAGGACATTCAGAATATGGTTTGATGTGTAACACATCAGAGCTAAAATATACTTAAGATCACCTAGTTGAACCCCATGATTTTATAGATAAAGAAAGGGGAGCTCTAAAAGATTAAGTGACTTGCCTCAAATAGTAGCCATTGGAGCCAGGACTAAATATCAAGTATCTAGACAACTAGGCTCCCGGGTTTTTCTCTTTTTTTTTTTTTCTTTTATAACCAGTTACTTTAGTCAATGTGGCCACTAAACTTTACAGTGGCTGTAAATAAGCAATGACATGAGCAGTGTCATATAAGCAAAAACAAGCAGGGAAATAAGAATATAAATAAAGCCTTGATCTAATATATAGAAATCAACCACTATTAAGATAGTTCATCATGTTGGGTAGATATGGGTATATAGTTGTCCCTTGGTATCTGTGGGGGATGGGTTCCAGGACTCTCAGAGGATACCAAAATCTGAGGATGCTCAAGTCCCTAATATAAAATGGCCTATTTTTATTTGCATATCACCTATGCATTCTCCTGTATACTTCAAATCATTTCCAGATTACTTATAATATATATTACAATGTAAGTGCTATGTAAATAGTTGTTATACTGTATTATTTTTAAAATTTGTATAATTTTTATTGCTGTATTATTTTTTATTGTTTTTCTTTTTCAAATATTTTTTATCCACAATTGCTTGAATCCATGGACACAGAACTTACAGATATGGTTAACCTCTTCAAGTCATTTTCATTAAAGTAAAAATAAAAACTAGGAAACTATTTTTAAAATAATGAGTTTGTATATTTAAGCACACAATTAACCAACTGGAAGAATTCAAGTGAATGTCTTTCCCTTCAACGTTTTTATCAATTTCTTGCTGTCATTCCCATTTCACATTCAATTGGATGTGTGTGTGTGATCGTTTTCTATGTGGACTAGGCAATAGGAAGCTTTGGCCTTGGGCAGCATTCCAATTTGTCAGCCACTTGGGATTTTATAAATGATGTTAGAATGATTAACTCATTGTTCATTTGGGAATATAAAGGAGTTTTTAAATTAATTATCATATATTTCCTTTAAGCTGCAAAGACAGACTGTGTGACACTCTGGGTATTTTTGGAGGTCTGTTTGCAATGGGAATCTGAGTTTGGCCTATAGGGTTTATCCACACCCCGGTTTGGAGAGTTTATTTCTAAGAGCGTTTAATTCTATTTTCTACCCCTTCTCCTTAG
Seq C2 exon
GGAGAGCCTTTTACAAAAGGAGAAAAAGGAGATAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000082293:ENST00000620364:19
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(24.4=100)
A:
NA
C2:
PF0139113=Collagen=FE(13.4=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
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