HsaINT0039288 @ hg38
Intron Retention
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134732071-134738515:+
Coord C1 exon
chr9:134732071-134732127
Coord A exon
chr9:134732128-134738473
Coord C2 exon
chr9:134738474-134738515
Length
6346 bp
Sequences
Splice sites
5' ss Seq
CCGGTGAGG
5' ss Score
9.35
3' ss Seq
CCCTCTCTCTGTCTCCCCAGGGC
3' ss Score
13.77
Exon sequences
Seq C1 exon
ATTGGAGGACCTCGGGGCGAGAAAGGCCAAAAGGGAGAACCAGCGATTATCGAGCCG
Seq A exon
GTGAGGACATTTTCTCATTCCCTCCCTGCGCCGGGGTGTCCGCTGCTCGGGGTCACAGCGGGGTGTGTAGGGTGTGAACAGGTCCGTGGGCCCCTGCACCTGCGCGCACTGGGTCACTTCGAGCAACCACCTGGTCTCGTGGAGTCCACGCACCACTTGTCCCCAGGACTTGTGAAGAATCCCCTTGGGTAGGGGATGTTCTGGACTGTGATGGAGGGGGCGGGATAGGTGCTGATCAAAGCCGGTCCTGCACCCAAGCTCTGGGCATCTCAGTGCTGGTCAGTTTCACCTGGGATGAAAAGCAGCTCAGAGCTATCGAGGCGGAGGCGGAGTCCCCTTTGAGGGGTGGAGGAGAGGATGTAAATGGCCCATTCCGTGTAAAAGATGCGCGCGGCAGTGGTAGGGAATAGTTAACACGTGGTCGTACCTCTCTGCGTCTGTTATGCAACCGTTTGGAGTAAGTTTACAGAAGCTGTTGAAACATGGAATACTGTTTATGAAACTTTATCAAGGGAATGAAATAAAACAGCACTGTGCTGAAATTCCAGCTGAGTAAAACCCAACTATGTTAGGTAATGAGATCACGGGTGAGTTCAAAAAGTTACTGTTGATAATGCCCTCAAGCGTGGGACTGTAGCGAGGACGTTCTAGATGCCCCTCCTGGTTGGCGCGTTTGGTGGGGGCCCTGCCCCATACTGGGGTGTCCTTGTCCCATAGGGGGCCATGGCCTGGCTGGGAGGCCTCCAGTTCTCCCTGGGGTCTCAGAGCCACTAAGGTCTTGATGCCCCGCCCCGCCGCCGGCAGGCAGGATGCCCTGTGATCAGCTGGGCAGGGAGTCCTGCCGCTGCATGTGGTGGGCACGACCGGAGAGCAGGGAGGAGCCAGCACCAAGGCCCACCCTGCCATGTTGTCCAAGTGCCCACAGGAGGAGGTGTGCGTCCTGCACCACGGCCAGTCATGAGGCTGGGGGCAGCTGTTTGTTCTGCCGCCAGGACTCAGTTCCTGAGGGCTGAGCTCAGGATACACCTTGGGTCTCCCAGAAGCCCCCTGACCTTGCAGTTCCCAGAATGTGCAGTCACAGTGACCCGCCACCCTACTGTAGAGCTGGGGACATTCTCTTGGAACCTTGACGGATGGCACTTAGCAGGCCTTTATACCCCTGGAATCTCTTTGAAGCCCGTGGCCAGGGCAGACGGGATGTGTCCCATCTCTGGGGTGGAATTCCCAGGGTCCAGGGCTTCACCCCTTCCTGGCCTATGGAAGCGTCTGGATGGCTCTTGTGGGGCTCTATGCCCTTGCTCCAGGCCCAACCCAGGGGTGGGACCTGCCGGTGCCTACAGACACATCCTTTTCTCGGACCCCCTTTCCAGTGCTCTCTGGGGGTCCAGGGAAGACAGAGCTTGTCTGAGGCAGAAGGGTCATGGGCTGCAGGGCAAAGGGGTGCAGAGGCATGAAAGGAGACTCTGAGGCCAGGATCCCCCTGCTCAGCATTGTGGAAAACCTCAGAGCCAGGCCTGGGCTCAGGGACCAGAGCAGCTGTGGGGGAGAGTGACTGCCGTCCGCCTGGGCGGACTCACCCAGAAGCAGGGGGCTGCGGGCCTGTTCTGCTCTGCCCAAGGGTGTTTGCCAGAAGGTGAACAACAGCAGAGGCTACATCCAAGGTCCCAGCCCCAAGCTACACTTGTTATTGAGAGGTGGGACATCCGGTTGCATTTCCCCAGACTTGGCCCCCAGGTAGACTTGAGGTTGGCCTTGGGCTTCTTTTGTGCTGTCCCCATTGCTTCAGTGAAAGGGGGTCCTTGCTCGGGGAGGAAGATGGGATCTCAGGGTGGGCAGGTGCCCCTGGCTCTGCAGGATCCCAGTTCGGTTTCCCCTCCCCGCTCTGGGAGGGCCGGACTGAAACCTTTGAATGAGCTTCGTGTTGGCTCATGTTCCCGAGTAAGCTGGCTCTGTGAGTGTAGACGTGGTGTCTGGGCTCCAGGAGGGGGTTGGGAGTGTGGGGTGGGCACAGGTTTTCCACTGCCAGGCACCCGGGAAGGCAGCAGTGGGCAAGGGTGGGCCAAGGAGAGGGCCGAGAGTCGAGGTGGCCCCACAGGAACATCATGGCTCTGGAAAGTCCAGTTCACCTTTGTTGGGAAAAGCAGCAGCCGTACAGGAACATCATGGCTCTGGAAAGTCCAGTTCACCTTTGTTGGGAAAAGCAGCAGCCGTCTGGGTGCAGTTAGGAAGGATTCCCTCCCCCGGGCCCCAGCCTGCTCCAAGTGTCCTGGGGCCTTTGGCCAGGCCCCCTGCAGAGATCACATAAACAGTTGGAATTTCTCAACCTGGAACGTTGCCAGATATCCTTGGGTCCAAGCTGCACATAAACAGATGGCCAGGTCCTGGGGCCCTGCGGGCGTCCCGGCCTGTGGAAGGGGGTGTCTGTTGTCTGCCCCACCTGAGCTCCCTCTTGGGAGATGCATCTGTTCCAGGGGCATGCCCAGGTCTTTCCCACTCAGTCCCGCTCCCTCTCATTGTCAGCCAGACCAGAGGCTCCCTAAAAGGACAGGAATCCACGGAACCGAGAGGAGACAGGTTCATCCTTATCCTTGTGCTTCCAGGCAGGAAGCCCCCAGACTCAGTGGCTGATTTTACCTGGGCCACATCCATTAGGGGCATCCAAATCACCATCTCCACTTGACACTGTTTTTTGTTTTTAAAATATGTGCTGTTTACCAGATGGGTGGACCCTCCATTGAGATTGTCTTGAGTTCTGCCAGGTCTGAGGTCTTTTATTTCTTTTGTTAAAATTGTATGCATTCGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAAGTCAGGAGTTCGAGACCATCCTGACCACCATGGCAAAACCCTGTCTTTACTAAAACTACAAAAAAATTAACCAGGTGTGGTGGTGGGCACTTGTAATCTCAGCTACTCTGGAGGCTGAGGCAGGAGAATCAGTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGACAGCGTGAGACTCCATCTCAAAAAAAAAAAAAAAATTGTGTGCATTGAAGGTGTGCAGCATGTTTGATAGAGTTACCCAGGCACAGACAGACACAGTGAAGTGATCCTGCACCCACCACCACCACCCCATAGCTGCCTCTTTTTCTTCTTTATGGTAAAAGTGCCTAAAGTGTACTCTTTTGGCAAATGACATCTACAGTGCAATATCATTAACTATATCGAGGCGTTTTCCTCTCGTTCCTCTTTCGCTGGGTCAATTTTGAGAGTGGCGTCCGTGGTTGGGTGGGCCGGGGCGGGAGCGGGGCCACAGCTTGCCTGGGAAGGTTCAGGCATCCCCACCCTCAGGCGCATTCATCCAGCTGTTCCCAGCTTCCTTCAGACGCTGACCTGGGATGATCTGGTGTTGGCTTCCCTGCAAGGTCCCCGCCCGCGTTGCCCCAGTTCCCTGAGAAAAGCAATTTGCGTGTCTGGGAAGGCAGCTGCTGTCCCTGGCCCCTTGATGGCCAGTGGTTTCTCCCTTAATCCCAGCTCAGCCCTGGGCTTTCTCAGCTGCCTTTGTCAGAGACGGAAATTGGAAAACTGGCATCTTGGAGGCTGCTTGGATGAGCTCTCTGTGTACAGCACACACACGGGTGTCTCTCTGAGTGTGCATCTGTGTAAACACAGTGCAGAGCTCCCCAGCTGGGGCAGGATGGGAGGGGTGGGGAGATCGGTGTTCCCCCCAACCGGGAGTCCCCTCATCAGCCTGGTACCCAGCACCTCTGGTGACAGCCTCTGGTGGCCTGTGGCCTGGCTGGACATCTGCGGCCCCCCCAGCCGGGAGTCCCCTTGCCAGCCTGGCACCTAGCACCTCTGGTGACAGCCTCCGGTGGCCTGTGAACTGGCTGGACATCTGCAGCCCCCTGGCCGGGAGTCCCCTCACCAGCCTGGTACCCAGCACCTCTGGCAGCAGCCTCCGGTGGCCTGTGGCCTGTGGCCTGGCTGGACACAACCTTTGACTTGTCAGAAGTGAGCTTAGTTCATTGTGAGCTGCTGTTACAGCACACCACAGTCAGGGTGATTTAGAATGAACAGGACTTCATTGGCCCACAGTTCTGGAGGTCAGGAAGTCACATATAGAGGGACCACATCTGGCGAGGGCCTTCTTGCTGTGTCCTCACATAGCGGAAGGCATCGCATGGTGAGAAGGAGCGGGAGAGAAGGTGACTGCTGCCATCCTGTCATCAAGAGCCCACTCCCACCCTAACGAGCCCGCTCCCATCGTAGCTGCATTCACCCATCCAGGAAGGCAGAGCCTGGTGACCTAATCACCTCCTGAAGATCCCACCTCTCAACACGGTTGCATTGAGGATTCAGTTTCCAACACATGACTTTTGGGGAGACACATTCAAACCCTAGCACATTCTGTCCCAGCCCCCAAATTCATGTCCTTCTCACATACAGTTTACATTCACTCCATCCGGTACCCACATCATCTCAAAAGTTCGAAGTCCAGAGTCTCACCCAAATCAGGTACTGATGAGACTTAGGCTCAAATTATCTATCTTGAAGCAAATCCCTGTCCAGCTGTGAGCTTGGGGAATGAAACAAGCCTCATGCTTCCAAACTACATGGTGATGGGGAGGGGGACAGGTTCCCATTCCAAAAGAGAAGCATGAAGAAAGGGGTAGCAGCCCCGAGGAAGTTCAAAACCCCACAGGACGAACCTTTCTAGAATAATCTTTCACTTGGTGTGCCACCTCCTGGGCACACTGGAGGGAGGCGGCCCCAGGGCCTCAGGCAGCACTGCTCATACAGCTTTGCACAGCAGGTCTCAGGAGTTGGAGCCTCGTCCTTGCTGCCCTCCCAGGCTGGCGCTGTATGCTGGTGACGCTACAGTCCTGGGGTCTCAATGGTGCCTCCACTTCCATAGATCCACCAGGCGTCATCCCAGGGAACTCTCTGCAGAGCCTCTGCCCCTGTGGCTGGTTTCTGCACGGGACCCCAGGCTGTCCATGCCACACTTTGACCTCTACGTGGAGGGCGCCATGGCCGCAGTTCCTGCCTTCCTTCCCTGCAGCTGCAGGATAATCAGTACCCATGGGTGTCGCCGAGGCCACACCCACACCCTCCAGAGCTGAGCCAGAGCTGCCCCTGGGCCTGCTGGAGCCTTGGCTGGGCGGCTGACGGGTGCTGTGTCGCAACGTGGGGAGCAGACACTTGAGGGGTGCAGGGCAGGGAATGCTGAGTTCCTGGGTACCTCTTTGAAAATGTGGTCCCCCAGGTCCTAGCTTGCCTCAAAGATCTCTGGCTGCCTCGGGGTCATTCTCCATTGTCTTGTTGAGTAGCACCTGGTTCCCATCTGTCAGAGCAAGTCCCTTGAGGAACAGTCGCCCTGAAGTCGTCATGGAACACGGAGGACTCTTGGGGCATTGGGGGTGCCTGACCCTGGCGTTGCCAGGTCAGAAGTGGAGAGAGGAATCCCGCCCTGGGGAAGGGGTCGGAAGTGGGGGTCTCAGGGCAGGGAGCCCCGTCCTGCAGGGAGCCGCTCCCACTGCTGCCTTCACAGCTGTCCACATTGCCTTTCCCAGGGCTCAGGCTGACCCAAGAGCCAGGAGGCCCTGTCCCCATTGGGGTTAGAGTGAGGCCTGGGTGTGCTTGAGGCAGATGGGCCCTGTGGTGAGGTGAGGGCCAGAGGAGGAGGGCTGAGTGGGCAGGTGGACATGGCAGGGTTTCCCATGGGTTCTGGGCTGCTGCGTGCATGGGAGGATGCACCTCTTACCTGGAGGGAGGCGGGGTCTGGAGGTTGCAGCCCTGGGGCCTGACGGTGGTCCTGGCTGGGGACAGAAGTTCAGCCTGGAGCTGGGGCACCTATTTTTCCCTTATCCTTCCCAAATCCACCCGAGTCCCCTTGTCCTGGCATCCACCTCCTCCCTCGAGTGGCTTTGGCCTGGCGGACCTGCCTGGCACTCCCCTTTGGGGTGATGCAGGGAGCCTGGCGGTCTCGGCTCCTTTTCCTCATCTCGGCGTCTTCAGGTGCTTCTCGTGGCGCTGGTCTTGCGGGAGCCTGTGTCTGTCACTGGCCGCTGGCCCGGGTTGCTCTTCTGCCAGCGAGTGCCAGGAGGACAGCCACTGAGGCCCCACCACAGGCCCCCTTTGCAGTCTGTGCTCGTGACTCCCCAGGACAGCAGGAGCTGAGCCAGGGCCTCTTGTGCATGCAGCTGAAGGCCGTCCACACCACTGGGGTCTGGGGTGTCGGGAGGGATGGGCTGCGGTCTCAGACGCCCTCTCTCTGTCTCCCCAG
Seq C2 exon
GGCATGCTCATCGAGGGCCCGCCTGGCCCAGAAGGCCCCGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635:ENST00000371817:9
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:
NO
A:
NA
C2:
PF0139113=Collagen=PU(18.9=71.4)
Main Inclusion Isoform:
NA
Other Inclusion 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
- Pre-implantation embryo development