HsaINT0039608 @ hg38
Intron Retention
Gene
ENSG00000206384 | COL6A6
Description
collagen type VI alpha 6 chain [Source:HGNC Symbol;Acc:HGNC:27023]
Coordinates
chr3:130649069-130658772:+
Coord C1 exon
chr3:130649069-130649562
Coord A exon
chr3:130649563-130658675
Coord C2 exon
chr3:130658676-130658772
Length
9113 bp
Sequences
Splice sites
5' ss Seq
GCGGTATGA
5' ss Score
7.46
3' ss Seq
GCTGCTTCTGCTTCTTTTAGATT
3' ss Score
9.19
Exon sequences
Seq C1 exon
GAAAACCGGAATGCCCAGTGCACCCAACCGAGTTGGTGTTTGCCCTGGACCACTCCCGGGATGTCACTGAGCAGGAATTTGAGCGGATGAAGGAGATGATGGCTTTCCTGGTGAGAGACATTAAGGTCCGGGAGAACAGCTGCCCCGTGGGAGCGCACATCGCCATCCTCTCCTATAACTCCCACGCCAGGCACCTTGTGCGCTTCTCAGACGCCTACAAGAAGAGTCAACTTCTCAGAGAAATTGAAACTATTCCTTATGAGAGATCCTCTGCCAGCAGGGAGATTGGCAGAGCAATGCGGTTTATTTCCAGGAATGTCTTCAAGCGGACGCTTCCGGGGGCACACACGAGAAAAATCGCCACATTTTTCAGCAGCGGTCAGTCCGCGGATGCCCACTCCATCACCACGGCTGCCATGGAGTTCGGCGCGCTTGAAATCATTCCCGTGGTGATCACTTTCAGCAACGTGCCCTCGGTCAGGCGCGCATTTGCG
Seq A exon
GTATGAGGATGAAACCTTTCACATGACAATTCTTACTTATCTTGCCTGTATTCAGAAGCCCCTATACTACCTTGCCTTCAAAATCAGGGCCATTTGTTAGGAAGTTTAAAAAATTCTGGATTGGCAGAGTAGAATAAGTATTTCTTACTGTGTACTGGGAACACGTTAAGCTCTTTCTATTAAATGGGATAATGTCTATTATTTACCTGTTTAATTTTCACAAGTAGTATGTATAAAATAGATGATGAGAAAACTGAGCATGCAGAAGTTAAGCCACTTTTCACGGTTCCCACAGCTAAGAAATGGCAGTGTCAGAACTTTACTCCAAATTTGCTGTTCTAGTGCTTCCCCAAGCTACTCTTTGAGTTGCCTCTGAATCTAAAGATACTGAATCAGGAGGCCGGTAAACATACATGTCACTTAGGGTAGTAATTGTTGCTGTGTGATGAGAGCCAATTTGCTGATTTTATAACTTCACTAATTATAAAGGAAAAGCCATTGCAGTTATAGCTTCTTAGCTTGAGGAGTAAAATCTCAAATGTGTTGCATTCCTAAATAAATTCCCTGGGATTAAGATGACTGATGATAACTTTAAAATATCCCGTTAATAGTGGCTCAGTGGCAGGGCTTCATCACTGGGGACCTGCTGGGCCCAGCAAAGGGTCCTTCCAGTTGGCCTCTTGGCACCACATGGTGTTCTGTTCTCCATGTGGAGACCGTGAAGGGGGGGGCCAGGGAGCAGCAAAGAGGCATTGGAAAATTTAAATTAAAAGTCCAGGGCCGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCGCGATGGCAGGCACCTGTAATCCCAGCTACTGGGGAGGCTGAGACAGGAGAATCGCTTGAACCCAGGCGGCAGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGCCTCTGTCTCCAAAAAAAAAAAGAAAAAAGAAAAAGGCCAGCCATTTGAAAATTTATTTAGAGAAAATAAGACAAGAAACAATCATTGTCTTCAAGCGTATGAAAAAGTATTACTGGAGAAAATTAGCCAGCTGAATTCCAAATCTGCAAAATCATAGAGAAACTAGGGGTGACAGCAGTAGGAAACTTTAGGTTTTAAAAAAGAATTTTTGAAAGGCAATGTTGATTTACTGGGCATGAATTAATGCCAGTAGTCAAGATGTTACCTTTATCTGCAGGTCTTTTGTAAGGGTGGTCACTCACCTGTGGAGGGTGACTTCTATTTTTCCTAGATTAGAGGCTAAAAGTGGCCTTTTGAGGCCATTTCCACTGTTCTAAATTTTCTGTGAAAGTGTTGAAATAAGCATAACAGAGTTGGAATATATTTCTCATCTGTAAAATATGGAAAGCAGAAAGCACCTGGTTCCTAGAGTTAGTGTGAAGATTAATTTATGCAACACTGCATTAGTGCCAGTACGTAGTGAGCAATCAAGAATGACAGCTTTTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCCAGAGATTGAGACTATCCTGGCCAACATGGTGAAACCCCGTCTCTCCTAAAAATACTAAAATTAGCCAGGCACAGTGGCGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGAATGATAGCTTTTGCTTTAATTATTAGCATTCAGTTGCTTGATCCTGAACAAAAATTTGTTTAATAATAATCTAGGTTGTAAAGGAGCTGAAACTGCTATTATTAATAGTAGCATCATTGAACTAACCTTAGAATTATGCAAATGAAAGGCTGATGGATCAGGTTCAGATAGGGAAATGCAATAAAGTAGAAAAGAGTGGGGCCGGGCTATGCAAATAGAGTTGCTATGAGAAGTAGCAGTAGCTAAAAAATTCAATAAGTGATTTTGGTTACATAGTCCTTGTAATTCCCTTATCCCTTGGTTTTGTTTAGTCATAAAAGGAGACAACTTTCTCTCCTGATGCAAATTGTGATATAAACTTAAACTGACACAATTCCACTCACCCACTCAAAGGTGTGTGTACAACATTTAACTTCTGAAAATGTACTTTGTGTTTTAAACTTTTGAGTGTTCAGTCTCACCTAGAAATTGATGAATCTGGTTTCTTGATTCTACTCAAATCTTCTAGAAACTCTTAACTCCTTTTTTGAAGAAGTTCATCTCAAAAGAGCACCAATGAAGGTTTAAATTCTTCATAATGACCCCCATTAATGTAAGCAGCATTGGCCCCCAACACTGCAACTTATATGTGATTATCTGATTATTTTTCCTAATTTATGATGTGTGGCGATAGGAACAGTAACTGCTGATCTTCTAGTTTATTGGTCCCTGCCATACATCAGATATTTAACAAATGCTGAATGAATGAAAAAGCTCAGCGAAGAGCAGTTCTTTGCAACAGGTATAGAAAGAACAAAAGTTTAATAATGTGTGAGATGCCTAATGCTGGGATGTAGGTTGGTTAAAGGAAACCCCAGTGATGTGTTTCTCGTGGAGAGGTACCTCTTCTCATTCAGATATCAGCAAGTCAGATTCAGAGATGATAAACACAACAAGGACCACATTGCTTTACAACAAGCTCAGGAACTCGGACTTGCTATGGAGTCAGAGATGAAGTCAGAATTGCTCCCAAGTTTCATCCAACAGATGTTTAATGAGTGCCTCATCTTATACACCAGGTACTGTCCTAGGGTCTGAGGATACAGGAGCAAACTGGAAAACCAAAAGGCCCACCCTGACGCTGGAAGATGAAACCAAGCAGGGTTGTCTGGAAGGGCTCAAAACAGAGCCATATATGCAACTTGGTTAGAACCCAATGTCTGATATTACAGAAGAGAAATTACATTACTACCTCTACTTGCCGCCTTCTTTCTTTTATCCATTCTCTTCCATTGTGCTTTACCTACATTTAAACTGTTGTCCATTATTTTTTAAGAACAGAACTTGAAAGTCTCATGATACAATGCATTTTTATTGTGGGTCCACATTTTAAAACCCTAGTTTGTTTCATACCTACCAAGGCTTTTCTAAATCTTGATCCATCTGGGAGTTAAGTAGTCCATCATGAAATTTGGTACCTGTGCAGCCATGTGTGTTGGGACTCAGAAGCACCCGCTCTGACAGCATATACTGATTTCCCTGTTTCTTAGCAAATGGACTGTGATCACCGTCTTGGAAGTTTTTCATGATAGTATGAAGTTGAGTGGCAAGCTGTGCCTTCCTTCACAAATGGAGGACCATTTTTTAATGGAAAAACATGTTTTTTGTTTGTTTGCTTATTTTGTCCCTAGGAATTTGCCTTTAGATTTGTTTAGCAATTGCTTCTTCTGATAAAATTTGACGTGCTGCACATTGAGGCTTCTAATCTAGGGTGAATCTCCCTTTCCAATATTTTGATAAGAAATATGTCTTTTAGCTAGCCTGGCTTTTTATTTTACACTGCTGTGTGGCGTCGCAGCTAAGAGGAAAATTAAGTGTAGTCTTTGACATTATAGATGATTCTCATGATTAGAGACAGAGTTGAAATGGGGGGAGACTTCTCATGGAAAACAAGAATTTTGGCACCCAACCTTTTTATTTTGAAGATAATTTTTATTTGTTTATATATAATTGTCTAGAAGAGAATTATTCATAATATTCATTGTATTTTTTCTTAGATGTTTAGACATGCCCCATGATGTTTAGAGAAGAAAGAGTAAGGTATCATTCAGAACCCTTTGCTAAATGCCCCAAACCTCCCATCTGTGAATGTAATAGCTGTGCTTTCATCCAAGCTGGTGCTTCTTTGAATCCACAGGAGAGTGAGCAATAAGAAACATAAATAATAGGACCATTTTATTTTAAATCTTTAGCCCACATTCAGTTTAAGGAATTTTTCTGTAATATGCTAACTATACTTATTCCAGTGATATGTGGTAGGATGAATGAACTCTAAAACTACATCTTCCAGACTTTATTGACTGAAAGATTACTTGGTCAAGGGGGAAAGGTTGGGGGAAGTGGGGAGGTATTGGGTGAGAGTGCAGACCCCCTGTGGACTCTCCCCATAAAACAACTCACTAGAATCAATGAGAAGGTTGATGTTGCTCTAAGTTGACACCAATGTGTTGATACGTGATTAAATGTGAGCCTAAATTATCAGCAGGGACCAACACCAGAAATATGGAAGTGGTCATGTTGTAGACATGTAGAACATGTAGAATAGAAGACTAATTAGCAAATGGCAGCAATGTTTGGGCAATGTCTTGAGAAACACTGCTCTAAATTAAGTTAGAGACCTACTGATAAAAAACTCTAATCATAAAGGTAGCTAATACAGAAGATGGAAGGTAGCCCTTGTTTGGGGAGAGCAAAACTTAAATCGGAGCCTTCCATAATCCACCCCTTCTGAGGCTCACTTGGCTCATCTTTAAATGGTTGCAATAGATGACATCATTCCTGATTTCTTCTAGATCAAATGTTCCATGATTTTTTTTTCCCCCTGGATCCTGATCATTGGCAATAAGAAAGCTCTTGGCCCTTCCCAGGTAGTCTGAGCTATGCTGTCTGAACTGACACTGGGTTTGGTTTCCAGTCATTTACCACAATCCAGATGGAGTGAAGGCATGATTCACTTAAAACATTGCAAAGAGACACCTCTTAATAGCTATTAATAATGCAGACTAACTCTCCTGGTGTATAGTCAAGACTACTTTGTTTACAGATCACAAAAACCAATTTAAGCTAGCTTAGGTATACCCATATACACACATCCTAAGTAGAATTTATAAGTATCTGGAGCCCAGGTGTCCTCTGGTCCTAAGTCCAGATAAGCAGCCTCTGCTTTTACCCTGTGCTCATGTAACGTTCCAGTAGGTTCATTTTGCCTACTGCCCACATAGAGCTGACTTAGCAAGATGGGGAATTGCAGTAGAGAAAGAGCTTAATTAATGCAGAGCCAGCTGAACAAGAGACCGGGGTCTTATTATTACTCAAATCAGTCTCCCTGAGAATTTGGAGGCTAGGGCTTTTCAAGGATAGTTTGGGGGAAGAGGGGAGTGGTTAGGCAATGGCACTTGCTGCAGATTGGTTGGAAATGCAATCATAGGGGTGTGGAAAATGGTCTTCATACACTCTGAGTCACTTCTGGGCGGGGCCACAGGAGTGGTTGGTGGGTTCAGGTGGAGCCATTAGTTATCAGAAATGCAAAACAACCTGAAGACATCTCAAAGGGCCAATCATAGGTTCTACAGTAGTGATGTTATCTGTAGGAGTAAATTGGGGAAGTTATGTATCTTGCAAGCTCCAGAATAATGACTAGTAATGAGTAATATAGCCCATTGTTCCTGAGGTGTCCAGGATCCCCTTTTTACCCTCCAAAGTGCCTCATAGATAAGCAATTTTGTTTGGGTTAAATCTTTCCCACGGTGGCCACTGTAACTCTTATTTTTGGTAAGGTTTACCCATTTCTCTAGAAGAGAATAGGTTCCAAGATAGAAGACTTGTTGAATCCAGATGAACCCACTCTTCTCTGTCTTCCTTAATCTTACCAACCTACTGGACCCAGTCCAGCTTCTGCCTGACCCAGTCAGACATCTGAGGCCTCTAATTGGATGCAATCCTATTAATTACAGGATCCAATCTGATCTTGGACCCAGCCAATATAAAAATTACTCAAATAAACTTGAAGAGCTCAAAACACAAGTTCATGGAGCTTGAATCAAAGAGAACTCACCCATGATCCCAGTTGCTGTGAGAGATCAATGGGCACAGTGGACCAGGCAGGTATATTTACCTGGTCACTTGGTGCGCCTGGGAGTCACTGGAAGTCTACTTTGGATCCCATTTGTGATACCAAAGTGTTAAAAACTTTAGGCAAGTTAAATTTTGCAGAGTTTATTTGCACTAAGAGCTATTTGTAAATCTGTCATGGGATCTTTGGGGTGTTGCTCCACCAGCTGGAAACCTCTGTGGCCAGTGGTGCCTTTGCCCAAGTTTTTACTCAGGCCCACTAGGCTTGTTCCACCCATTCAGCCTGGCAGGCTGTGCTTGGCTCATGCTACCAGCCTGAATCTCATACCTGCCAAGGGCAAGCCAGGCATGGAGCAGCGAGGGGTGTGTGAGCAAGTGATTGTGGGGTGGCAGGGTGGGCAGCTCCCTGCGAGGCTGTGGCTGGACCAGGTGTACCTCAAGCAGCTTCCACAGCTGGCACTGGGGAACATGGTGGCACCTGGAAACTTGGAGATGCCAGGAACTGCAGACCCCCAGAGAGGGTATCACAGCCCTGACTTGAGCTCCTAGGTCTGGGCTCCCCAGAGGGCTGCAGCTCTTCTCTCTCCTCTCCTCTCTCCTCACCTTGTTGTCACCCACAACGTGGTGAAAAAGGAGCATGTTTCAGCCCTGTGTGTGTTACAGCTGTTTTAGCTCTACCATTCAGTGGGTCCTGAGTTTTTGTCCTGCATCCTGGAAGAATGAGGTACACAGACAAGTGGAGGGTGAACAAGGTGAAGAGGAGCTTTATTGAGTGACAGAACAGCTCAGAGGAGACCTGCAGTGGGTAGCTCCTCTCTGCAGACAGGGTCTCCTGATGAGTGTCTGGCTCTCAGCAGAGAGGAGGCCCTGGGGTGGGTAGCTCCTCTCTGCAGCTGGTCAACTGGTGGCCTCCTTGAGTCTGTCCGAGTCCAGGGTTTTTATGGGTTTCAGAGGGGAGGAAGTGTGTGCTGATTGATTAATGGGAGGCCACTGACGGGCCAGAAAAAGCACCATAAGTTCCCATTTTGGTCAGCCCAGCCCCCAGGCTTCGGGCTCCCCCTGGCTTGAAGGTGGGGTTTCACTGAGGACCCACCCCTTTCCACACAGAGGCCTGTCTGCCTCCTTCTGTCATCCAGTGGAGCCCAGGCTGTTTGCACTGAGGGGTGCCTACAGGCCAGTACCAAGCTGCCCTGAGAACCCCCCTTGGACTCCCTCTCGTGCTTGTTAGCACCCAAACTCGGGAGGGGGCTGAGGCAGTGAGGCTGGCATGTCAGCACTGCCCATGGTGTGTGCACACCTGGCCGGGTTGCAACAGTGCCTGGGCTCAGCCTCAACTTTGCTCCAAGATCAGAGCAGGTGCTGGAGCAGAGAGAGGCTAGGTAGCAGGAGCAGGCATTTCGAGCTGGTAGGGGCAAGGGGTTTCCCAGGTCTCCAAGAGTGCAGAAATGCCTGGGCCCACAGCCGCAGCCAGACGGCTGCAACTGCTCCCAGGAGGGCAGGGCCCCTGCCTACTCCCAGCCCCCAAGAGCACAGGGATGCCTGGGTCTGGAGCCACAGCTGGATGGCCGCAGCTGCATTCAAGGAGCAGGAGGCTCTTACCCTGCCAACTCAGAAGCGGGTGGGGCTTCCACCTGTTCCCAGCTCCCAGGGTTCCATGGAGTGTGCAGCCCCGACTGTACTCAGGTAGCATGAACCAAGCACAGCCTGCCAGGCTGAATGAGTGGGACAAGCCTAGTGGGCCTGACTGCAGCCAGCATCATGGCAGTGGCCACTCCAGATGGGCCACCACTGCCATCAAATCGAGCAGCCCTCAGAACCAGAGGAGTTTCAGAGAGCTGTTCTTCACAATGTGGCAGGCAGTGTTTATGGATGAAAATGGAAGTGAACTACAGAAACAGCTTGACTGATTACGGTTCGGGCTTTGCCTCATTTGAACATGGTCTAATCAGTTGGCCACTTGTGACTAACTGAAGCATAGCCGCTATGATTGGCTAAGACTTGGCTATTTGTTTAAAACAACAACAACAACAACAACAACTCCTAAGATAGGTTTTCAGTTAGTACGTACTAAGTTAGGTTGCAGTTGGTTACATGAGGACTCAAAATACAGAGGTGTCCTCAGGCCAAATGTACTTTAACACCATATCTAGTCCAGTCAGCTATGGTTGAAGACAGAGTTACGCCATATAAACAACTGATGAAGTTCTACCTCTGTGGATTAATTATGGTGATGGGGGATCTTCCCAGAGAAAGAGGGTAGTCATTAGCTTAGGACAGGAGAATCACAGGGAAAAACTAAAATATCATCTGACTCATCTCTTAGGCATTAGATAAGGTCATGCCTACAGTTTTTCTTTAATTATCAATGATCTCTGGGTCAATTAGTGAAGCTCATAATTCTTGTTCAGAGCCTCCTTATCTTCCCCCTGTTCTCTACCCTCAAGCTCCCCCTGTGGGTTACTAACAATGGGGCCAAGTTGGGAAAGGGTTGGGAGTTGTTCAGAGAGCTGCATGGACGTAGATCTGAGTGTATTTCAAAGACAGCTTCAATGCCTAGTTTATAGTAGAAACCTAAAGATAGTTTATAAAGGGCATCCTGTGATTTTACATGGGTCTCTGAGACTTAGGTAGGGGAGAGGAGGTCTCTGATACTCTTTCTTAAATGGCTTCAGTGTCTTTTGATCGGTCCTTTTAACGTTTCATTGAGCTTCAGTTTCCCCATCTGTAAAATGGGGATGATGAGCATAACTCACTGTATTGCTGCAGTAATAGATATGAAAATGTTTTGTGATCATTAACCACCCACACTGTACTGTCTGTGCAAGCGCTTTACAAATATGAACCCATTTAATGCTCACAGTAGTCCTGTTAGGAGGTAGTAGTACTCTTATTTTACAGATGAAGAAACATGGAAAATAACTTGTCATATAGTTAAATTGAGAGTCAAGGTTTAAACCCAGACAGAGCTCTTAGCCATGCTTACATGCTGTGCCTCCCCCGTACCTTCTTAGAAGGAGCAGTGTTACTCTCTCCAGATGTCAGTTCTCTATGTAGTCCTAAGAGGTTCTTGCAGCCCTACCCACTAAGTTCTTTCTGCTGCTTCTGCTTCTTTTAG
Seq C2 exon
ATTGACGACACTGGCACATTTCAAGTAATAGTGGTTCCCTCCGGGGCCGACTACATACCAGCATTAGAGAGACTCCAGCGGTGCACTTTCTGCTATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000206384:ENST00000358511:32
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.079 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0009223=VWA=PU(94.5=93.3)
A:
NA
C2:
PF0009223=VWA=PD(4.3=21.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
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