Special

HsaINT0038364 @ hg38

Intron Retention

Gene
ENSG00000082293 | COL19A1
Description
collagen type XIX alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2196]
Coordinates
chr6:69932783-69936910:+
Coord C1 exon
chr6:69932783-69932863
Coord A exon
chr6:69932864-69936784
Coord C2 exon
chr6:69936785-69936910
Length
3921 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGT
5' ss Score
11
3' ss Seq
AGCCTCTTTTTGGATTTTAGTGC
3' ss Score
6.17
Exon sequences
Seq C1 exon
ATTGAACTTCACCAACTTAAAATCTACTGCAGTGCAAACCTCATAGCTCAAGAAACATGTTGTGAAATATCAGATACTAAG
Seq A exon
GTAAGTTAATTTTCTTTGCATATGAAGAATGAAGAACGCCAATTATCTTTTAGTGGCATAGTTTGTAGAGTCCAAATGTAGGGTAGCACTGAGTGTGTTCTGTTGAAGCCAGGTGGGTAATTTATTCCTAGTAAGGAAGCATTCATAGTGCTTTCTCATGGTTACTTTCAACAGTTTTAATCCCAGCATTTCACCCTTAATTTTGAGGGTAATATATACTCACTTTGAACTCAGTATAACTTAAAGTTATGCCTTTCTTCCTAAACTATGTTCTGACAGCAGCATCATTTCCAGTTACAGAAGTTTTAAATCTGTGATCATACTTTATTCTCACTCATTTTCCTTTTCTACCCTGTCACCCATCCTGGCTAGCTTTCCTTTGACATAGACTTTTCATCCTTATCTTCCATTTTCCTGTTACTGCCAAAGTGTACATTTACCTCGTGTCTGGGATATCAATCATTATTGGATCAACTGCCTTCCCTATGTCCTGCCCCTTTGCTTTGCAGCATAACCAGAATAAGTCTGAGTCACTGCTTTGTATATTCATTCACTCTCTTCCAGCAAACACTTTATTCAGAAACACTGACCTTCTAAACACTGTGCTAAGGAACAGGGCTAACAAACATGATTAAGGCACATTCCCTGCCCTCTCTTCATGTCTTTCTCTTAAGTGACTCCTGTTGGAAGTGAAATATAAATGCAGTTTCTCAGCCTCTCATTCTAAATATTCCCAACCTAACCATACAACTGTTACTTACTTATACCAATCTTTCATTACAAGAAAAATACTAAATTCAATACTTTCTGTATCTCTCAGTGTAATGGCCGTGTGTGCTATCTTATATTACTAGGTGTAACTATATTTGTTTTTAAATTGATTTAAGTACAATTCAGACTCAGTAAGGGAAGTTTTACCTTGATAAACTTTTTTATTCCTAATGCTTCATTTGGAAAAAGTAGACAATCATTGTTTGATTTATTGACTTACCAATTACTAAAAAAGATAAATGGGACAGAAAGATATTCAAAGGGGACTGGTTCTAAAAAAAAGTACAGAAAGAGCATATGAAAAGTGCAAGTAAAAGGTGAAAATGTCTTTTCTTTGGATCTTAGATTTCATAAATGTTCTATACTTGCCATAGAAAATTATATGAAAATTTTATCAACAATTTATGATTCAAAAATATTTTTGACTTTTGTAGCTCACTTTGGGTAGTGAAATAAGAATGTGACCAAAGCATAGCTTAAAGCATAGCTTTAGTGACTTAAAGCATAGCTAAGTCTTTCAAGTATTATATGTTTTGCTTTTGTAACTTGGCTTTATAAAGCATATCTCCAATCCACTTCATGTATCTCATTCCAAGTAAAATGCCAGCCAGCCAAATATCTTTCTATAAATATCTGAAAAGATAATTTAGAATGCCAATCTACAGACTTGAAATACCTAGACTTCCTGGAGCTACACATTTAAATCTTAAAGATGTTAATTCCCCCAAAATTTTGTTTTTAATTATGCTTTTTTGATGTCAGAGTTTTTAAAGTAATAACTTTCTCTGGTTGTAAAGTAATATAATGATATTTTGATATATCTGAATATTATATAATTAGCCAGTAATCACTGCCCTTTATCATTATATTAATGTAATAGAAACTTTCCACCTGATTTATGAGGAAATTGTTTAAGAAGTATAGGTGATGAATTGGGTGGAATGGTTGGTAATTCAAAGCAGTGACATGATCTCACACATTATGAACAAAAGATTTTTAAATCATATTTTGAAAAGATTATTTGGGAGTTAGTTTTAAAGAATAGAACACAAGGTAGGAATTTATCTCTGACTATGGAAAAAATAAGGAAAGACTGTATTTTTGCTGACAATTATTTGGAGGGGATATCACCATTCATTTAATGACTAACAAAAAATAGAAACATACTACATTTTATGAATAGGAATGTACAGTTGGAAGGATAAATAATTATATAAAAGCCATTTAAATGCATCTGCTCTACTTCCAATACGAATTGTATTTATTTTCTTTTTTGTTGCAAAATGTTTTGAACTCAGAAATTTTTAATGTAGTTGCTTAAATATCTAATTTTGTCCTGGAATTTCAAATCACACATGTTTTCTGGTTGTCAATATTTTATAAAGCATTTCAAAGGCAACATTTTTTAAAGATCACCTATAAAGATGCTTCTTTGTTTCTATTGGATTTTCAGTTTCTAAAGTAGTTAAGTTTCATGACTCTAGATATAAAAAGAATGAAGAACAAATATTAAGAGAAGGATGAAATCAGTAACATTTGTTGAAAATAAATGAGAAATGTGGTTAAATTTTTAAGGGCTAATACTGAATATGTGTCAAATCAAAACCAGAGGTTTTACGAGGAGAAGAGTCCTTACTTGTATGTTTGGTGTTGCCTCTAGGCACTTTTTGTGGAGTGTGGACAGGTTTATGGTGAAGCCTGAGACATACTTTTAAAGTTATTTAAATCCTCAATTTAATATAGTGACTCAGTTATCCAGAGCAGAATTGTGAATTCTAAGTGGGTCTTGGTTATCTGACTGGAAAGCCATGAGGTAAGAACTGGCTGAAACATCATATCAAATCAAATGAGATGAATGAACTGTTTTGGTAATAACCTTGTTCCATTCAAATATACAATAGTTTTTAGACTTTCAAATTTGGGAACTTGTTAGGATAAATAATCCTGAAATCTGGAGAGAGTAGATTTGAAAGAACTAGTGGTGGATACAGTAAACTAGTTGCTGTATTTCTGGGTGTTGGTTTTGTTACAGTTTTTATTGTAATTATCAAAGAATTCAACTACTACCAAGTTTTTTTTTTTATTTCTTATTTCCAACTTTTATTTTAAGTTCAGGGGTACATTTGCAGGATGTGCAGGTTTGTTACATAGGTAAACGTGTGCCATGATGGTTTCCTGCACAGATCATCAAAATGAATTTTTGTTACAAAACTTATCTATGTTTACTGGAAAATATAGCCAAATCCATAAAAGAAAATAAATATCAATCATGATTTCAACCACAGTAGAAAACCACAGATAATATTTTAGTTTTGTATCCTGAAAATACTTTACCATGCATTTATAATTTGTGGTATACAAAGTAATGTATTAACTCTCTCCTAGTGCTTTCTCTTCGTGAAATTGCAAATTCAGAGTGGAAAACTATGGTGAGAAGTCTGGTACATGATGTTGAGAAAAAACAATGTGTTTATCCTCCTCAGATTCTCCATTTGGGTTAATTTTTTAAAAAATGTTCGTTGCTTTGTAACCAAATTGCACTTCACTTTGTCCAGCATGCTCTGAACCCACTGGATAAGTATAAAATGCACTACTTGTCTGTTGTAGTGGAGACCTTTTTAATATCTTTAAGGAACAGTAGACTAGAACAAAGTATACTTTGATTTAATAAATGTTGTCTAAGAGTGTAAAAAGAATTTATTTTCTACTTTATATGCTTTAATAATCATCTTGTTGAAGGAAACCATATTTTATAGGTTCAAATTACATGTTTCAACTTTAATTTTTGTTCCCAAAAGATGTATTCACATGTTGTTTGTACAAATTATTTTATTGCAACAATACAATTATTATAAATGTATGAAATTTCTGTACTTATCAAAAAGTTACCTAATGTAACTTTGTAATTCCTTACCAAGACCATTATTTTAAATATTTTTCTTGCATGTTGTCAGTATAAGAAAACCCATGGGCTCAGGCGGAAAGTGCAAAAGTGTGATAAACATTCTCACACTGGTGTTAACTTTTGGTTAGTAAGAAGCAGTTCTTGCAGGCAACCTCAGCAATCCCTAGTTTAGTGGGAGCCAGTGTTTGGAACATGAGAATGTTTGGAATTGACCCCATTTCCTAAAGCCTCTTTTTGGATTTTAG
Seq C2 exon
TGCCCAGAGCAGGATGGCTTTGGAAATATTGCATCATCATGGGTAACTGCTCATGCCAGTAAAATGTCTTCATATCTGCCAGCAAAGCAGGAACTTAAAGACCAGTGCCAGTGCATTCCAAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000082293:ENST00000620364:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.159
Domain overlap (PFAM):

C1:
PF133851=Laminin_G_3=PD(7.6=44.4)
A:
NA
C2:
PF0139113=Collagen=PU(3.2=4.8)


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
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