Special

HsaINT0038341 @ hg38

Intron Retention

Gene
ENSG00000082293 | COL19A1
Description
collagen type XIX alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2196]
Coordinates
chr6:70151397-70156231:+
Coord C1 exon
chr6:70151397-70151438
Coord A exon
chr6:70151439-70156126
Coord C2 exon
chr6:70156127-70156231
Length
4688 bp
Sequences
Splice sites
5' ss Seq
AAGGTACTC
5' ss Score
7.46
3' ss Seq
CTTATCTTTATACTCATTAGAAT
3' ss Score
4.52
Exon sequences
Seq C1 exon
ATTGCACTTCCTCTCTTGGGAGACATCGGTGCTTTGCTCAAG
Seq A exon
GTACTCTATTGCTATGTAAGAAATTATGTGTTAATTTCCAGGAAAAATTAGAAAGAAAAATATTTAGCAGAAATTGAGTCAATTGCTTAGCTGGAACTAAAATTCAATTTTTAAATGGCAGGACATCTTTAAGATAGGAAAATAAACATGTATCTTATATATCTTGTGCCATTTATCCTAATTCTTTCACTCTCTTCTTCTTTACCAGCCTCTCATTTTGGGTGGGGCAGGGGTGGAGGGCAGCTGGTAGGATAGTTATGAATTGGCTACAGGGAAGGAATTATGTCATTAGCACTCTGGAGTAGATTATTCTCTCCTCTGGAGGAACATCTTTCTCTTAATGGGTGTTGACTCACCCTGGCTCACTACTGTGAAACCTAATCTTTCTCGCTATATCTGGCCTGGTCAGTCCCAAGATGAAAATCAGTGCTGCTCTATAAATAGCCACTTACAAGGCTGAATTTTGATGTCATAGGATTTTACAAAATTCCACAGTTGACAAGTGCCCTAATACCTGTTACTCTGTTCAATAAAAATCACCTCTACCTATTATCGTCTCAGGGAATTAATCTTGCTACCTCTTTTTTTTTTTTATCTCTAACACTTCCCTGTATTTTATCAGTAAAACAGGTAGGGGGGGATGATAATGGCACATATGTAAGGGTATGTATTTGCATGTTTCTGCCTGATATGCTAAGATTGAGTGAGGCCACATGAAAATCAGGCCCTTGACTTCATACTCAAACACAGTGTGTTGTATCTGTCTTTGTATGAATGGACGTTGTGTATGTGTACACACACACACGCACACACACACAGACTACAGTTATATATATATAATTTAGTTTGTATTTCTAGCATTTAGCCCAGTGATTTACACAATTATTTGCACAATAGTAAGCAGGCAGAAATATTTGTTTAATTGAATTCAAAAGACTCGAGTTCCGGCATATACATTTGTAAGGTAGAGTTTTGAGAATAGATATATAAACATAAGTGTAAATATGAATATAAATATAAAAATATATTAAAGGAGTTTCTAAGACCTCCAAAACCAGCAGTTTTTATAAGCCAGAGAAGAATATTTGTGGGGATTTCAGGAAAATCTTATATTTATTGAGTTAAAATTACATGCCACTCAATATGCCACTTTACTTATATCATCTTATTTAATTTCCTTAATAATCTTATGAGTTCAGGCTGTTGCGCATTCCCACTCTATAGATGAGAGACCAGAAGTTCTCAGCAGTTAAGTAACTTTTTCAGTCATAGAGCAAGTAAATGTAACATTAACACAGGAACATAGGTCCTCAGACATTAAGTCCTAGATTCTTTACAAGACAGTGGTGCTGGAAATAGCAGGATTGCCGGAGTTATATCATTTCAGAATACTTAGGGTTCTTTAAGGATGAGAAACTTGTATGCTTTAGTAGAAATGAATATACTGGTAGAATATGGGATCTCACAGAACAGATAAAAGGACCATGAATAGGCTCTGACGGGAAGTGGAACCAGGGCTCTCAGAAGTGGAACTAATTGACAATCTCGCCCGGGAATCATCCCTCTAATGAGTGTGCTCTGCCATTGCACCAATCCCTGCATCATTTCACTAAGGTTCTGAGTCCATAACGAGCAGGACATCTTGACTGATAGTCTCCACAAACTGTATACAATAGAAGAAAGGGGAGGTATGTAGTTCCCCGAACAAAATCCAAATACAGGAATTTAGACTGTGGGTTGGATCTGTCATGCCAATGTAATAACATCATGTTAAATCCTGATCTTGTTACCCTATATGTTAACACTATCTCTCTCTGCCTTGAGTCTTTAGACAATTTGATCATCCTGCTTTCTGTTCGCAAAAATATCTTTGATTAAAGTATTAAAAAGAACTGGCATAATTACAGGCACCTTCAAAGGCCTTCTTCTAGATTAATCAGCATATCAATCCCTCTTTGAACGACTTTGTGTATTGGTTAATAATTGATGCATCTTTATTCTTTCCATGAGAAAATCTTAAGACATTTTTCCAAGAATGTTAACAAAACTCAGTTATTTAAATTTGCCATTCTGGTAACCCTAACCCAAAGAAAATGAAGTCAGTTTCAAATGACTCTTAAAAATTATGTTTATCATAATGATTATCATTTTTTAATGTTTCACTTAAACAGTCTATTGAATAATCTATTCTAAAATGTTGCTCCATATTGATATGCCAAGGTTTTGCTCCATATTGAGATGCCATGTTTGTGTCTGCAGATAATTATCTTTTTCATACTTTTTGAAATATGGAAATCATTTTGTTTTTCTTAAGTTCTCAAGTGTCTCTTTATCTTCATAGTTTTTCAGGTGTCAGTAATAGTTCTATAAATATATATATTTAACTCCCCTGCCAACACATTACCACCTGTGAAATAATCCAGGTGGTAAAATTCATCTGGGAAACATTGCATATAACCCTAGTTCCCTTTTATATATTCAGACTCTAAGAAAGACCACCATGAAGAGAGCTTTTTCACCCAGCATTTTTTTTATGTACTTTAAGTTCTGGGGTACATGTGCAGAACGTGCAGCTTTGTTACATAGTTATACACGTGCCATGGTGGTTTGCTGCACCCATCAACCCGTCATCTACATTAGGTATTTCTCCTAATGCTATCCCTCCCCTACCCCCCCCAACCCCCCACAGGCCCCAGTGTGTGATGTTCCCCTCCCTGTGTCCATGTGTTCTCATTGTTCAGCTCCCACTTATGAGTGAGAACATACGGTGTTTGGTTTTCTATTCTTGTCTTAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTTTTCCATGGTGTATATGTGCCACATTTTCTTTATCCAGTCTATCATTGATGGGCTTTTGGGTTGGTTCCAAGTCTTTGCTGTTGTGAACAGTGCTGCAATAAACATACGTGTGCATGTGTCTTTATAGTAGAATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATTGCTGTAACCCAGCATTTTTGAGATGATTTGCCTCATGTATTCATCAGGGTTCTCTAGAGGGACAGAACTAATAGTATATATGTATATATGAAAGGAAGCTTATTAAGGAGAATTGACTCATGTGATTACAAGGTAAAGTCTGACAATAGGCTGTCTGCAAGTCGAAGAGCAAGGAAGCCAGTAGCAGATCAGTCCAAGTCTCAAAACCTCAAAAGTAGGGAAGCTGACAGCGCAGCCTTCAGTCTGTGGCCGAAGGCCTGAGAGCCCCTGGCAAACCACTAGTGTAAGTCTGAGAGTCCAAAGCTGAAGAATTTGGAGTCTTATGTTTGAGGGCAGGAAGCATCCAGCACAGGAGAAAGATGAAAGCCAGAAGACTCAGCAAGTCAACCCCTTCCACCTTCTGCCTGCTTTATTCTAGCCGAGCTGGCACCTGATTAGATGGTGCTCACCCAGATTGAGGGTAGGTCTGCCTCTCCCAGTCCACCAACTCAAATGTTAATCTCCTTTGGCAACACCCTCACAGATGCACCTGGGAACAATACTTTGCATCCTTCAATCCAATCAAGTTGACACTCAGTATTAACCATCACACCTTGTAAGCTTTTCAGTATCGTGCAAAATTAGTGTTCCAAGGAGCCCATGTTTGAAAATCAGATTTACATTGCTATTCATTAGGTCAAAAATATTGAATTTGAATAGCCATGGGCTTTCTTGCCAGCTTCTTATCAATAACAAGCTTCACTTCTTTTTCATGTTTAAAGATTCTTCCCTTTAGGGAAAAGGATGGAAGAATGGAAACTTAAGTTGTCCTACCTTCTGTCAACTGTTAAACTATCTCCCCCACTCAGTGGCCCTTATTCTGTGCCTTTCTTGGTCATATTCTTATTCCAACAATTTATTTAAAAATAAGCCTATATAGAGCTTTTCACACACACTTTCTTTAGCTGTGTGATGAGAGTTATGTTTATCTTATGAGCTCAGACACTTGAAGTCAAGCCTTCCCAGATCAACTAAAGGTTGCAGAGAAGGCAATGGAAAGGTCATTTCACTTAGATTTCCTATTGTCACTTGGATATGACCTAGGAGTCAAGTTTATGTCAGTCAAGTAATTATTTCTCTCGAGTGCCTCCACTGACAAAATGTTAGTAAACTGTATGTAGTTGGAGAACTAATTTTGCTCCCAGAAGAACAAATCCTTTCTTCACAATTTTTTCTGTTGTTTTTAAAATGGTTTATGCTATAGGTTGTTTGAATTCTGTAATCTTGCTGGGTTTTCTAAACTTTATTACCACTCCCTTTTAAAACATTCTGCTAAACAATTGAGCCTCAGTTTTTGTTCTTGACTTATGTGTCTTTTCCTTATTTATTTGGAATTTTCTATTTAAGTGTCATTGGAGACCTGTTTTAAAAATAAAAGTTCATCAATATCATAAACAGATATCACTGATGAGCTTTGTAAACAGTTTTTGCCTCACAAAAATTAATGTTTTTAAATTGGATACATCAAGTGTCTGAAAGCAGAATGACCTATCTATATCACTCATCTCCAGAGGTTCCAAAAAAACTTCACATCACATGAAACCTCACCTTTATAGACGGCTTTTATGACTCCCTCAGTAACCTTATCTTTATACTCATTAG
Seq C2 exon
AATTTCTGTGGCAACTGCCAAGCCAGTGTCCCAGGGCTGAAAAGCAACAAAGGAGAAGAAGGAGGTGCTGGTGAGCCTGGAAAGTATGATTCCATGGCCCGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000082293:ENST00000620364:31
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.500 A=NA C2=0.829
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(1.8=7.1)
A:
NA
C2:
PF0139113=Collagen=PU(34.6=80.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
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

  • Autistic and control brains
  • Pre-implantation embryo development