Special

HsaINT0037943 @ hg38

Intron Retention

Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:103018818-103021769:-
Coord C1 exon
chr1:103021707-103021769
Coord A exon
chr1:103018860-103021706
Coord C2 exon
chr1:103018818-103018859
Length
2847 bp
Sequences
Splice sites
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
3' ss Seq
GTTCTCTTTTCCTGTTATAGGGT
3' ss Score
10.85
Exon sequences
Seq C1 exon
ATAAATGGCCATGGTGCATATGGAGAGAAAGGACAGAAAGGAGAACCAGCAGTGGTTGAGCCT
Seq A exon
GTAAGTAGTAGTGTGAATACACTTTAAAGGTTGGTAAAATTGCTTATGAGCCACGATTATGTTAAATTATTATGTATGTTCGTGTTTTACCAATGATAATCTTGATGTCCAGATGTTTGCAATTCACCACAAATAAGTAAGTTAATAAGGTCTTGTCTAGAAAGGAGAATTTCAATAAAACAAAACATTATAGAGCTGCAGAAATTCAGAATTTGAAAGTAGCTGAAATTTGTCTTGTCTAATTCTCTCATTTTAAAACTAAAGAACCAGAGATCTAAAGGACTTAAGTAATTTTCCTGAGGTATCAAATGTTTGATCAATGAGATATAATAGGACTTTTAGCTTTCCTACTTTCCAATCCAATGATATTTTTCTCTAATCTCTATGACTTCACATTATTTGAAATATATAACATATATTTGTTACATATCCAAATTGTGTCATATGATATTTTTTACTTCCTTTTCATCTACAGAAGAATCTCTAATTCACTCCAAATTAATCTTTTAAAATTTATATCAATATTATTACTAATAATATTGCTAAGAAACAGATTCTTACTTGGAAGCGGTTTTGCCATTGTTTCCTGCTAATAAACAATTCAGAAAAACTAATGTATTAGAACTGAAGGTAGAACAACACGAAAATCATTTCAGAAATTGTAAGGACATAAAAATTTCAAAAAAAAACAGAGAAAGAAAAATGATAAAGAATAAAAAGATAGTTGTAGATATGCAGCGTTATTTCTGAGGGCTCTGTTCTGTTCCATTGACAGAACAGAGCCCTCAGAAATAACGCTGCATATCTACAACTATCTGACCTTTGACAAACCTGACAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATATAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGACTTAAACGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACATCTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTATTTCAACCATTGTGGAAGTCAGTGTGGCAATTCCTCAGGGATCTAAAACTAGAAATACCATTTGACCCACCCATCCCATTACTGAGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGATACATGCACATGTATGTTTATTGCGGCATTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAAGGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCGGTAAACTATCACAAGAACAAAAAACCAAACACTGCGTATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGATGCAGCACACCAACATGGCACATGTATACATATGTAACTAACCTGCACATTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAAAAAAAAGGAATAAAAAGAGACAATTTTAAGGACCTTGTTGGCCATCTACTCATTACTCCAAAATCATGCAACATGCTCACAAAAAGTGTTGAAAATATTTTTTTCAGAATGAATCAGTCCTTATTATAAAAAGTTTTAACCCCCTTTTTAAATGACATTATAGCTTTTCAGCAGTCCAAAGATGGAGTGGAATCATAAATGTTTTAGAACTGAGTTCTTATTCTGAATAGCTCTTTATTCCTTTGCTTATAAAGAGCTTATATCATATTTATTCATTTTCCTTTTGCCTGGATTTTTCTGTAATTTCCCTGAATTAAAGTGCTTATTTTCCATTCTTTCATTTACACAGCAAATATTTACTAAGTTTCTGTTTTATGCCAGGTATTATTCTGTGGGCTACAAACAAACGAAAAACAAAAAATAAAAAACCTTGGTAGATTGTTTTGTCTGTACTCTTCCTGGGAGCACTTAGCATATTCTCCTTTGTAATATTATTCATCTAAATATTCATTTCCACTCCACTTAATTCACACATTCTCTGAGGGCACAGTCTATATCTTCTATAATTTTGAATTTCTTTCCTTCCCTGTGCAAAAACATTTGTAATTAATTTAAGTGGTATGAATAGATAATTCACTATTTAATATGCAATGATATAGTGTTCTCTTATATTCATGTAATTAAGAGGTTGGGGGTTATATTTCCCTGGTAGAGATGTTCTCTTTTCCTGTTATAG
Seq C2 exon
GGTATGCTTGTCGAAGGACCACCAGGACCAGCAGGACCTGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718:ENST00000370096:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=NA C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PU(1.7=4.8)
A:
NA
C2:
PF0139113=Collagen=PU(22.8=92.9)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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