HsaINT0039506 @ hg38
Intron Retention
Gene
ENSG00000163359 | COL6A3
Description
collagen type VI alpha 3 chain [Source:HGNC Symbol;Acc:HGNC:2213]
Coordinates
chr2:237325560-237333548:-
Coord C1 exon
chr2:237333450-237333548
Coord A exon
chr2:237325725-237333449
Coord C2 exon
chr2:237325560-237325724
Length
7725 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
TTCTCATGTTTTTATTAAAGATA
3' ss Score
6.21
Exon sequences
Seq C1 exon
AGAAATCTCAGCCCCCACCTCCACAGCCAGCAAGGTCAGCTTCTAGTTCAACCATCAATCTAATGGTGAGCACAGAACCATTGGCTCTCACTGAAACAG
Seq A exon
GTGAGTTGTGAAACTATTAGGTCCATTAATGGCACTAAGAAAATACCCATCTTGATTCCAATTTAACTTCCTGGGTTCTAAGTCTTAGCCCAGGCATGACTTCTATGGGGGAAAAGGTCCACGTCAGCTCTGTGCAGCCCAACATCATCTTATTCTGCATAATCCCAGGTGTAAATGGAGTCTTACTTTACCTGTGATCAGACTCAGTGAAAATTTGATGGGAGGTGCTTTTGGGGCTATCACTAGAATTCACGTATCCATTAGACATTTCTCCTGTGCCTCATACTGGGACTCGAGTTGATTTGTGGTCTGTGATGCTGTGAAGATTGGCGTTTCATTTACTCAGTGATTTAATCTAATAAAAAAACTGCTTAGAAGAACACAAGACAAATTTGGCTGGAATCCATGAAATGCATGGGTTTGGATCTGACCCATGGGGTGTTCTGGTCCGGACATCCTAAGCACACACCCCAGCTTAGTGTGTGAGTCTGTGATACTGTCTCTCATGTGCTTGAACCCCAGAGTGTGTGCATAGTCTATGCTAAGTTAGTGACTGGTTAGGTGTAATTCAGGAACTGACAGCTGTTACTTGCTTTTGTTCTTGGGCAGTGAAACTCTGAGAGACCTGGAATCTCTCATTCAGCAGAATGTGGACTTGGCTTGTTCATCGGTGAGAAACTGATTATTAAAATAGTTGATAGGCTTTGCTTAAGAGTGTTCAGCAAAGAATGATGGTACTAACATAAAAAATGGAAATGCCATGGGAATTTAGATATAATACTGTTTTATACACCTGAAGCAAAAGCTTTCTGCTAACTAGGGGACAATTCATTATTTTTTGGTGTATCGTCTACTGTCAGGAGGAGGAAAGCATTTCTCTTCACAATGCTCATTTCTGTAATTGATTTTAAAGGTGTTTGTTGAGTGAGCCTGTTAGGCGACCCCACCATGGTGCTTGAGCTCAAAGAGAAGCCACAAAGAACACAGTAGATTTTCCCCAAAGGTGTGGGTCAGGACAGATTCAACTCTAACTTCAAAGTTGCTGAAATCTGTGTATGTCATTTCTCACTCATTGGTTAACTTCTCCCTGAATACAGTGTGGGAAATAGAAAAATTTTAGCCAATTTAGTGCTTCATTGAGAGAAAAAGACTTGGAGTAAACTAGAGATCAGAGATCAATAATGAGTAAACTAGACAGCAAGATTTGGGGATGTTTTTGATTCTCTTATGTGTGGTCCAAAAGGGACAAGATTGTATAAACAGTGCCTAATTCATATAAACAACAATGTCTTTCAGCAAGGGTCTGGCTGGGCTGTTTTGTTTTTCTTTTCATATATATATATATATATATATATATATATATATATATATATATATATGTAGAGAGAGAGAGAGAGATGGGGGGAGAGAGTTGTGAGGTTCAGAATTAAGAAGGTGCTTTTGATCCAGACCTTTAACACTGAGATCGCCTGTCTACCTGTGATAAAGAGAAAAGAGCTTTTGAAATTGGGGCTTGTGTTTCTTTCAAGGCTGCAAGTAGTTGATACAGATGAATCTAAATAAAACCTTTCTCCTTCATACTAATTGGGGCATAACCCTCAGACCCAGGATGTGAATGTCCTCTCACCATTTCATGTGTGTGTGTCTGTGTATGTATGTGTGTACACATGCATATGTGTGTTTTCCTTCCCAGGGTGAAGACATAAATTACCTTTTTTTTTTTTTAAAAAAAGAACAAGGCCCTGCATAATTGATCTCTGATCTCTTAAACTTAATGACTTCATAGTAACAAACAAGCACTTAACCTGCCTTGGCCTGATGAATATATGTTGGTGTACACACAGTTATGGCATTTTTGAGAGCTCTTTTTGAATTACTAGGTTGGTGCGAAAGCAATTGCAGTTTTGCCACTGACAGTAATGGCAACAACTGGAATTACTTTCGCACCGACCTAATAAATGGGACATTTACTTAAAAATGTCTAAAATTCAAAATGGATAACCAGAATTAGGAGAGGAATCCTTATCCTCCCCACCCCTACCAACCTCTCTCCCTCCCCTCCTCACCTTCTCCTATAATTGTCATTTTAACTATTTCCCCTGGGGTGGGGGGAAAATTTTTTAATGGTTTTTATATATTTGGATATAGGAAAAGGAGTGACAATGAACCACTCTTTATTAAATAACTAAAAAAAGATAATAACTGCATGCTTACTCAGTAGTTGCATGTATATTTTGCATCCAAATTCCAATGACCACGATATGCATTATTTCTCCAAATATACATTTTCTAGACCATTCAGGCAAAATGAAGTTTTAAAAATATATTTTTTATATTTACATGTGTCCATTTTCATTCCTCTTACTTTCTGCAGCATCCATTAATTAGAAACATGTTTACAGAGATGGGTCCCTTTCTTAGTATTAAATAGTAGATGCTACTGTTTGCTTTTTTACTTCTGTGAATAAAAGATGCTGTCTTAAGAATCTGTATTTTTCATAGTTTATCATGTTAGATTCTGGGAACCTGGTGACCTGTGTTTGAATCTGTGAAGGAATTTGTAGGTAGAAACACTCTGAAATGAAAAGGTTCCTAGTCCTGGGCACCTAAGGCAGGGGAAGAGGAGAGGACCAGTGTTACCATTGGTTTTCGTTTGCATATGTTAATGTTTGCCCATTTTGACAGTCACATTGAATAGATGCTTGTTTATCAGGAATGTGAGTCAGGCATGTAATGCGAGGGCAGTCTGGTTGGGGCATTTTTTGTCCTCCATAAGATCTGGCCCTGTTTGGTATGTGGCAGGGAGACTCTCGCCTTTGAGATGAAGGTTGATTCTGTTAACAGGCCTTGATTCCATTAATATACCTAGGGCATCGTTAGCAACCACTCAGGATTCCAGCTTTACAATATTACATGATTTGATTTTCAGTGGTTAATATTTGTATTTTTTTAAATAAAACCAAATGAACCCCCACAAAAACATCTCACTCCACTTTTTGCTTTGCTCGGCATCTAAAAGAATTATGCTCCAGCCACTTTTCTGTCACACATCTGCTGCCTGTAAATGGCAGTGAGCAGCAGTGGATCTTTCATTCGTTACCGTGGCCTCCTGAAAGCATGGGTGTGCTGGGCCTTTCTGCCACCTGCTTTGTCGCTGCTGATTTTGACAGTGCTACGTAGTTGCTAATTTTGGTTTCAGGCTTTTGTTACCACCTCCCTCTTCTCCCTTCTCATTTTTAGCTAAGGAAGCTTTGGATAGATATTTTCTATGCATATTACTATTAAAGCTAAGACTGTCTAGAATTTCTAAACAACAACAACAACAACAAAAATCTAACTTAAAATTTACTTTTTGCAGTATTGCAAAATGAATCCTAAATTATTGGCTTAATCACCTGTGTTAAAGAAGTTTCAATGCAGAAACTAGACAAAACAACTAACAAAATCACCATGTCCTTTATTATTTATTCTTGAAATTAGCAATCTGTAGAACTGATCACATTTTGTCCGAGTAGACATGACTGGGCCAATTGTATAGCCCTGAAGGAACCATCATTTTGTGTTTACTAACGTTTTACTTATTGATTCTAAGATGCACAATTTTCTTCTCATTGGGACACTTCTGAAACTGAAATGTGACTTAGAATTGACAATATATCATGGTTTATTGGTAGCATTTTGTGTTACTTAGTGGAACATAAAATAATGGTGCATCATAAAATTAAGAGCTCTTATATTGGATACAATACAGTATTTGGTTGGCCATGTTCCATGTGAATATATATCATCAATTAGCATAAAATGGTATATTTGGGGGAAATACCTGACTTTATGTTAATAATAATTTAAAGAACAAACTAATCCCACAGCTGAAGTAAGTTAAATAGCTACAGGGATTTAGGAAATGGTCCTCTCCAGGCTGTCTGTTGTTCATCGCTGTGTGAGGATGTTTTCTGGTTAGTTGTCATGTGTGGGTTATGATGAGCCCAAAGGAGTGTTTTTTATCTTGAAGTCTTAAAAAATAGAAGTCTGTTGGTCAAGATCTGAAAGAGTAAAATTTAACCACAGCTACATTTTAAAATAAAGTTAAAAATTGGCCGGGTGTGATGGCTCATGCCTATAATCCCTGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAAGCATGATGGCTCATGCCTGTAATCCAGCTACTGAGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCATACCTCTTCATTCCAGCCTGGGCAACAGAGTGAGACTCAGTATCTAAATAAGTAAATAAATTAAGTAAGTTAAAAATTTGGTAAGTTTCCTTGGTACCCTTTGAACTGACCAATGCTCAAAATGTAGACGGCGGAAAGTGTTTTCATTCAGGCAAATCATACCTGCATCCAAGGTATGGAAGTACTTTATACTGTAACAACAATGCCGAGTGAGAAGGTGATTGAATTTTCTTGTTTTGGGGACCATTAAACTGATGAGGAACATGTTGATGATTGCAGCATAAACACCTCTCAGTCTGTCTTCCTTCAGTTTGCTCAAGGAAGTACTTACATCGTGATTTGGAAATCAATATGTTTGGGAAATGTCAAAGCTGATGCCTTTAAAAATGCATTGAAACACTATGGGAATATCAAACTATGAAAAAGACAAGATTTTCCAATCAATATGTTTTCCACTTTGAAGAATACATATATTTTTTGCTGATTATAAAGTTAACAGATATGCATTGTCAAGCATTCAGGAGGTACAGAGAAATATATTACACGATTCTCATTGTGACAGCATTGCTGGCTTTTGATGAAAACCAATAGTGACCCGATGCATAGCCTTCCTATTTTTTTCTATGAATATTATTGCTTGTGGGAAGGTGCATGCATCGCACATGCACATCCACTCCTGCACATCATTATTACAAAAATGGACTGTGGGGCTTAGGGTGCCTTGCGCCCCAGTGTTTTTGAATGGTTGTTTTTAGGATGTTCTAGGTAGGCACCTGTGGCTTCTGGGAACAGGTGGGATTCCCAGAACAGGGTTTTAACCTAACATTGTGCTTGCCTCCATTTCCTCTCTTCTATTTGGTTACTTTCCTGAAGCCCAGTGACCAATAGTAAGGAAGTTTCAGCAGACAGTGGTCTGAGTCAGGCAGCCTTTCCCCTCTCTGTTTTCCAAGCAAACTTAGTTACATTGGTATTCTAGGTTAGGAAGCCGGGGAAGGTTGTGGATAATTTTCAGTCCCCATTGTCTTTTAGGCTCCCACTAGGTTCTCAATAATAAAGAAGAGCAAATTAAGGAAGACTCAGCCATGCGCTCCTCTCACATAAAGAGAAGGCTCTAGCTTCCTACAGGTTATACCTGGGGGGCAGACTGATTTCAGAGGGAAAAGATGAACAACTATTGCATCCAAAGACGTGTCGTTCTAGGGAAAAGTCCAGGTTAAGTTCAACGAGGGCCAGCCATCTCCCTTGGTACTCCAGGACATTTAAATACTTTTTTTTTTTTTTGCTTTAAAACAGTTGCTTTAACATATGCACTCATAGCTGAGTAGAGTCCAGCCAAAACGACATGTCTCAGAAGTCAAGATTATGTGGAGTTTGCATTAGAAGCCTTCTTAAGAACATAAAATCCTCCGTTTTCATGCTTCAGAAGTAGAGAAGTACAGGTTTTTGTCTTTGAATAGTGCCGGGTTCTCACCTCACTAATATATTTCTCTTGGTTTTCCAAATATCTTCTTGTCCACAGTAACAGTGTCCTTATTTTCCACTAGTAAATCTTACAGGGTCTCAGTAGTGACTCTCACTGAAATAAGGGCAGAAAACACCAGTGCCGTGGTGTGGAACTGGAGGGCTAGGGTGGAGGGCCAAGGAAGCTGGAGAAGCCAATCAGACGGGGAGTGGAGTGTGCTGCTGTGAGGCCACTCATGGGCTGGGTGTCCGTGGCTCTGGGCAGACCTCTCGTGACTGGTTCAGCAGAGCCCAGGGGACTGGGAATTGAACAGCTAAACACAGATGGTCAGGACTGAAGTGCACTTGAAACAAATAAAATAGAGCAAATAGGGTCCATTGGCCAACGCTCTGGGAAGGAAGGAAGAATAGGGAGATCATTTGACGCCGGCCTCACGCTAACAGGGAAGCCACCAGTAAATGAGGAATAAATTTTGATGGTTAAATTACCTTGCCTTGTCAGTTCTCTCCAGGACCTTCCTTGACAGCCAGGCATTTTCCTTCAGTTATTGGCATATTTGAGAGAAAGAAGGTTGTTTTTGTAAATTGTCTTCATTTTATTCTGACTTCCTGGAGTCTTCAAAGGCTCTCGTGGGGACCACTGGCTTTCTGGGCCCTGAGAGCGTCTGCAACTAGGAGGTGTTGTAACTGTGGAGCCACCAGCCACCAGCCTGGAATTTGGGTGACAGCAGCAACCAGGAAATGTTTTAGACCAATTCTGAGCCTCAGTCCTGTGCACCTTTGAGTCTGGTCCATCGTGGGTGATCCAAGCTATGATTATCCACTGAAGACTTAGGTTTTCCTTGTCCTTTTTGGTATCTATCTGAAGCACAGATGCTCACCACCTCCGCAGCTGTGAGCAGCCTGCCTCGCTGGGGACAAAGGAGATGGAGAAGCATCTCTTTGTAGGGGAGAGCTGGATAATTCCAGCCTGTTAGCTACTCACAGGAACATGCAGAATTATTGGCTCCAGGGAGTTTTGGAGAAAGAAGGTTTACGTTTTCAAACTTACAGATAACAGTTGACATCAATGCTTCTCTTTCCCAGAACAATCTGGAGTTTGCCAGAAAACTCTGTAAACAGGAGTCGTGCTGTGTGTGAACTGTAAACTCTTCTCTCCAGGCGTCGAGGGGACCTTTGCTTTACTTTGCAGCTGGGCTACATCAGACGTGTGCATTGGAAACATAAACTTCCTTAACTGGGAAAAGAATGCTTCTCTGTCTTCAAAATAGTTCTGCTATGTGACATTTTTGCCATCATGAATTTTACATCAGTGCTAGCTCTTTGTTTTACGTGTTTCATTTGGCAGGTCACAAAGGCTCTTGGCTACCACACATACGTGCATACACACACACACACACACACACACACACTCATAAAGGATTTTCTTTTCTGCTTTACCTTTAATTTTCAGTCTACTTGGCTTGTAATGAAAGGTAGAGCCTTATTTTTGAACTATATCCCAACAGAATCGAATTTCCATTTTGCCAAGAATTATAAAACCCTGAGGTTTTAAAATTCAGTTTCTTTTCTGGGGATTTAACATGGAAGGACTTGGAGGGCAAATGGCCCAGTGATTGGAAAGGGGAAAAACAATTCATTTCATTTAAAATTATTCAATAACCATTGCCAGCATTTGGGATTCTGAGTGCTGTTTATGAAGCCCTTTCATTGATATAATTTCATCTATCTCTCACAAGGCTGTAAGCAATTCCTATGTCCATATGGCAGTGAGGAAATGGAGATTTGAGCAGGTTAAGGGAGTTTTCACCTGGAAGCTCTTCTTTTTTTTCCTTCTGCCACAGTAGGGTCATCAGACTGTCAGCCCCAGCACTGGGAGCCGAGTAACACGCATGTTCTCATTAATATCCTTTTCTCATGTTTTTATTAAAG
Seq C2 exon
ATATATGCAAGTTGCCGAAAGACGAAGGAACTTGCAGGGATTTCATATTAAAATGGTACTATGATCCAAACACCAAAAGCTGTGCAAGATTCTGGTATGGAGGTTGTGGTGGAAACGAAAACAAATTTGGATCACAGAAAGAATGTGAAAAGGTTTGCGCTCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163359:ENST00000295550:42
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=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0001418=Kunitz_BPTI=WD(100=94.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
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