Special

HsaINT0039228 @ hg19

Intron Retention

Gene
ENSG00000130635 | COL5A1
Description
collagen, type V, alpha 1 [Source:HGNC Symbol;Acc:2209]
Coordinates
chr9:137642636-137644491:+
Coord C1 exon
chr9:137642636-137642728
Coord A exon
chr9:137642729-137644434
Coord C2 exon
chr9:137644435-137644491
Length
1706 bp
Sequences
Splice sites
5' ss Seq
AGGGTGAGT
5' ss Score
9.25
3' ss Seq
TGTCTCACTTTCCTTTGCAGTTG
3' ss Score
11.26
Exon sequences
Seq C1 exon
TTCCGGTTTGGAGGTGGCGGCGATGCGGGCTCCAAAGGCCCCATGGTCTCAGCCCAGGAGTCCCAGGCGCAAGCCATTCTCCAGCAGGCCAGG
Seq A exon
GTGAGTACTGCTGGGTCCCAAGAGGCCTGAAGGGGACAGAGCCCAGCCCCAGGGGCCAACAGGAGTGAGTGAGTCAGGCTCAGAGCCCAACTTGGAGGGAAGCAGCTGTCTTGATCCCAGAATGCCTGCTTGCTGGGGTCAGGAGCTGTGGGAGCGTCCAGTCCTCAGTGTCCAGTAGGGACCCCGAGAGCATGTCAGTGTCCAGTAGGGGCTCTGAGAGCATGTCAGTGTCCAGTAGGGGCCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGAGCGTGTCACTGTCCAGTAGGGACCCCGAGATCATGGGGACTGTTTGGGGAGTTTCTCAGCAGTTCTTTGTCCATGCTGAGGGTCCGGGTTCTAACTTTACAAGGGGCTTCTGGGCCCCTCCACCTCTGACCCAGTAGGCCCACCTTCCACCGTTGGTGACCTTTGCCTCTGTGCTAGGCCCTCTGCTGGGATCCAGAAGTGGAGCCGGAAACCCACGTGGCTCCTGGAAGGGGCTGCCTGGGCTGGAGCTGGGCTCCTCTGGGAGAGAGCCCTTGGGCCCCAGAGCCCCTCACTCTCAGCCTGGGGGGTCCTAAGGAGCAGGGTCCGCAGAGGAGCACTTGCCTCCCTATTGTGAAGTAGCTCATTAGTGGCCTGTGTTTTCTGTAGACTTGGCTCCGGATTGCTGATTGCCCACGATAGGTGTAAACACTGCCCCGTGGGGCGGGTGGGTGGGTGGGTAATCCTCCAGCGGAGTGCAAGAAAGCTGCTAAGTAATCCCTTGTTTGAGAAATATTTATGCAGCTCCCACAGCAGCCAGAGTAGATGTTAATGATCAGAGTGCTTAGGTAATTACAGGACAGTGTAAGCACAGAGTCGTTACCATGGAGCAAATTGCCTGAATGATGGAAGGTGGTGTGTAGCAAACCCCACTACCTGCCACTGGGTTTATGGGCTTGGGCCTGCCTGGCTGGCCTTTTATCTTGTGTATTTTAATTGAAGCTAAATGGATGATAGGCTATAAGATTTTATAATGCAAAACAAAATATTCTAAAATTCAGATGGCATCTGCCAGGGAAACAGAGTCACTTGGCAGCTGCAGAAGCGGCTCTGTGGGAAAGCGGTGGGCCCTGCACTGGTGCAGGTGGGGGCCACATGCAGAGGGGGCAGGTGGGTTCCTACCCTCCCAAAATACTTCCCCAGTGGCTGGGAGTGCTTGAAGCGCCTCCCATGTGAAATAAAATATGTCATGACTCAGCTTGAGCTCAGGTGTAAAATGTACTCCCTATGCCCAGAGTAAGAGGCTTATTTCTGACCTAGCCAAGGGTGATGGGCTGGGAGCAGGCCCTCTCTGTGTGGGCTAGAGAGACAGGAAGGAGGGATGGGGCCTATCCCCCAAGGGAGGAAACGGGGGCCCACTGGCTTGCACCTCTGCATGTCCCACGTCACTCCCGTGGATGCTGAGAGCCCCATCGAAGTCGGGGGGGGGGGGCCCTTGGGGAGTCATCAGACCTCCTTTTCCAGAGTCTCCTGTCCCTCCTCTGTCCAGTCTGCCCGTTCCCTCCTGCCACATCTCACGGCTCAGGCGCCAGCAAACCGGAGCACTGCTGCTGGGGCCCTGTCTCAGCGTGTCTCACTTTCCTTTGCAG
Seq C2 exon
TTGGCACTGAGGGGACCAGCTGGCCCGATGGGTCTCACAGGGAGACCTGGCCCTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-COL5A1:NM_000093:13
Average complexity
IR-S
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:
NO
A:
NA
C2:
PF0139113=Collagen=PU(25.8=84.2)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
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