HsaINT0039575 @ hg38
Intron Retention
Gene
ENSG00000172752 | COL6A5
Description
collagen type VI alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:26674]
Coordinates
chr3:130384804-130389134:+
Coord C1 exon
chr3:130384804-130385364
Coord A exon
chr3:130385365-130388579
Coord C2 exon
chr3:130388580-130389134
Length
3215 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGC
5' ss Score
10.22
3' ss Seq
TTTTTTTTTATAACATGCAGGAT
3' ss Score
8.2
Exon sequences
Seq C1 exon
GCTGTGTGGATACAAAAGAGGCTGATATCCACTTCCTCATTGATGGCTCAAGCAGCATCCAGGAGAAACAGTTTGAGCAAATCAAGAGATTTATGTTGGAAGTGACAGAAATGTTTAGCATTGGCCCAGACAAAGTCCGAGTTGGAGTTGTGCAGTATTCAGATGACACAGAAGTGGAATTTTATATCACTGACTATTCTAATGATATTGACTTAAGAAAGGCTATTTTTAACATTAAGCAACTAACTGGTGGAACTTATACTGGGAAAGCTCTGGATTACATACTGCAAATAATAAAAAATGGAATGAAGGATAGAATGAGCAAGGTTCCCTGTTACCTCATTGTGTTGACTGATGGGATGTCCACAGACAGAGTCGTGGAACCTGCTAAGAGACTAAGGGCTGAGCAAATCACTGTTCATGCAGTTGGCATTGGGGCAGCTAATAAAATAGAACTGCAAGAAATTGCTGGGAAAGAAGAAAGGGTTAGCTTTGGGCAGAACTTTGATGCTTTGAAAAGCATAAAAAATGAAGTCGTTCGTGAAATCTGCGCTGAAAAAG
Seq A exon
GTAAGCAACACAAAAAAGGCTTTATTCTCCACATTTCATCAATTGCTTTAGGCAGATTAATGGCCAGGCTGAGACAAGGCCTGATGTGACCAGTTGTCCGGATAACATTTTGCTAGCTTCCTTTATTACCATGGAGGGATTCAGCCCCTCACTTTTAAACCAAATGCCAAGACTGGAGAATCTGTCTATAAACAGTTGCCCCAAGGCCATCTTGGAAGTCATAAGTGGGAAGGTTGCTAAGAATGTTGGGGCCTTGACAAAGCCCACTGCTGTGGAGTGAGAGAGATTCTATTCTGCATGGGAGGTGTGTGTGTGTGTATGTATGTGCATACACAAATAAGTACGGGGGAAGTACAGTGTTTGTGTGTGCACAGGTGGGTACAGTGGAAGGAAAATGGACTTTGGCTCTAGATAGCTTAGGGTTTGACTCACATACTTCCACTTGAGCCTGGAACATTGTCATTTATAAAATGAGGATAATACCTACATCAGAGAATCCTTATAAGTTGAGCACCATAAATGCCAACCATTATTTTTATATTAAATGCATATCAAGTATATATGTAATAATTGTTCATTTTTATTTACAACAAAAACACATACTTGCATTTTTGTTCTAATTAGAGATTAAGTACCAAAAGTTAGGAGAAACAATTTGCAAATTTCTATATCTGGTTGTTTTTTTATTTCTATTATTAATAATGGCCACTTACACCACTTACTAGTTCAAGATGGTATGTGTTGATTGCCAGTATTAGCACATGAAAATATTGCCTGCTGAGAAGCACATTAGTTTACTGGTAAAGAGGAAAGATGCTAGAGTCAGAGTCAAGGTTCATACCCTAGCTTTACCACTGATTAGCCACGACCTTGAATAAGTTAGTGTCTACTTGCCTTGGTTTCCTTGTTTGTAGGCTTATTGTGAAGCTTAATGGTGATAACACACGTGGAGCAGTTAGAGGAGTGCCTGGAACATAGTAAGCGCTACAAAAAAGTTAGCTGTTGCAGAAGGTGGCTAAGGTGTTCACCGATGAGGAAAGGAAGAGAATTCTCACTTATTTGACTAAACTGAAAACGTGTTTGAATTTTCTCTAAGCCACTGAAAAACAAAAATAAAAAATAAGTAAGCAAATAAATAGCATTAACAACAAAATCCTAAGTAACAATTTTGTTCATTTTTCTCCCTGTTATGGACAGTAACAGAGTTGGGTCTTTAGGGTGTCTTAGAAAGAGTGCAAGAATAAAAGATTCCCCAATGTTTCCTGGAGTCGATGCTAAGAAAAGTAAAAGGATTCCAGGAAGCATAAAGTAGGTTGTATCTCAGATCCTTTCAAGGGAGAAGGTCCTGGACGAATCTAGGGAGGTACAGTACATCCCTTGCACTTCAGGTAGTTGCAGTTGAAGTAGTCAGCCTGAGCACTGGCATGCCTGGAGGAGGAGATAAGTTGTGGACAAGGAAATGAGTCATAAAATGGCTAACAGAGAAGCAGGAAAACAAAGGAGCCAAAGCTTGTGGAGCTAGAAAAAACTAAGGAGTCTCAGAGCAGATGCAGATGGAGTGAGGCACAGTGTATTAGTAGGGTACAGGTTAAGCTGCAATAGCAAAAAGACCCCAGACTACACAGTACAGAATATCATTTTTCTCTTACATAATAGTTTAGGGTGAATAGTCCAGGTCTAGTAGAGAGGCTGTTCCATCCTCAACACATAGCTTCCATCTTTAGGTCAAAACTGAAGATCCAGTTCTTATCACCTTCCATCCATGGAAAGGGAGAAAGGACCAAGGGAGCCTACCACACTCAACTGTTTTAATGGTAAGACCCAGAAGTGGCCAGATCACTTTTTTCTCATACCTTTTGGTTAAAACTTAGACACAAGGCCACAGCTAGCTTCAAGGAAGGCTGGGAAATACAATCTTTAGATGGGCAATCATCTGCCTATCTAAAATTTTATTAACATAGAAGAATGGAAAGATAGATATTCAGGGACATTAAGTAGTTTCTGTCACAAATAGATACCAGGAAGTAGATCCTGTGAATACTAAACTGTATGTAGAAGCCTATTTCTTTTATATGTGTTACATGGAAGAGAATCTTTCACACTTCACTACAGTGGTCAAGGCCACTCTGTCAAGGCCACAAACATCTTCAGCAATTTCTCCTCTCATGACTTTCAAGATGGTTCCATGGCAGCTTGAATCTTAAAATGGTGGTGTAGTCCTCCTGGTGGATCAGAATGTGACCTTACACGTTTATTAAGTAATAGTTAACATCTTTTCATTTTTTTAATATATGGCTGATGCTATGTTTATTTTCAAGAAGTATGGGATAGACTTCAGAATGTTGAGGGAGAAACTGTAAGAGGATGGCAGAGATTACAGATAGACAAAAGGGATTAAGACTAAAAAGATACATGCTAAAGACAATATATTTGCATATTATATATATACACAACATATGTATCATGAATTAATAATATTGTTTTTAATAGATTATAGAAATTGGTTTTATATGTGTACATATGTCTATATTATACATAGAACAATGAACATACATATGTGTGTATATATATGTATATATATATATACGTATGTCTGTATGTTCATTTCCAATCAGTAGGCTGTCTACAAATATTATGTATAAAGGAACAGTCCATGTTGAATGAGTATATGCTTACTGAAGCACTTATCTCTAGTAAAAACTTTTTCTCCAATTTCTAATATTGATTTATAGTGTTTATGAAATCACTTAGAATTATCCCAGAAAATAATGCTATTTAAAAATTATTTGAAATTGTGTTTCTCCAGAATATACATAAAACCCTGGAGTGTTAGTACTATGAGTGCAAGGAATTGATTGCTTTGGCTCTGGTTCCTTTTTTGTATCACTACTGCATCTTTAACACATGGCTGGATGCCTGGCATTTTATACAACTCAAAATTATGATTGAATGAATGAAAGAAATATGAATAAATGAGTTATGCATGCATGCATGCATGCATGAATAAATACACATTTTGGAAGCTGCATTTCTGATTCAAGGTTCTAGTCAACCAGCTTCTACTAAAGAAGCAAATACAATTTTCAAACATAACAACAGTTGCCTGAGTTAATTTTCAATGTTTTCTCATTAATGCATTTGTTTCTGCCTTAATGTTACTTCATGAGAACCTTTCCAACCTGGTTATTTCTGGTCTTTTTTTTTATAACATGCAG
Seq C2 exon
GATGTGAAGACATGAAGGCCGACATCATGTTTCTGGTGGACAGTTCTTGGAGTATAGGAAATGAAAATTTTAGGAAAATGAAAATCTTCATGAAAAACCTGTTAACTAAAATTCAAATTGGTGCAGACAAAACCCAGATTGGTGTTGTTCAGTTCAGTGATAAAACTAAGGAAGAGTTCCAGCTTAATAGATATTTTACACAGCAAGAAATTTCTGATGCAATAGATAGAATGTCTCTCATCAATGAAGGCACTTTAACTGGAAAGGCACTAAATTTTGTAGGTCAATACTTCACCCACTCCAAGGGGGCCCGTTTGGGGGCCAAAAAATTTCTCATCCTCATCACAGATGGAGTAGCGCAGGATGATGTGAGAGATCCTGCTAGAATTCTTCGGGGCAAAGATGTGACCATCTTCTCTGTAGGAGTATACAATGCCAATAGATCTCAGCTAGAAGAGATCAGTGGGGATAGCAGCCTAGTTTTTCATGTTGAGAACTTCGATCATCTAAAGGCACTAGAAAGGAAACTTATCTTTCGTGTGTGTGCTCTCCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172752:ENST00000312481:5
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=0.000
Domain overlap (PFAM):
C1:
PF0009223=VWA=WD(100=92.6)
A:
NA
C2:
PF0009223=VWA=WD(100=91.9)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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