Special

HsaINT0039284 @ hg19

Intron Retention

Gene
ENSG00000130635 | COL5A1
Description
collagen, type V, alpha 1 [Source:HGNC Symbol;Acc:2209]
Coordinates
chr9:137721822-137727050:+
Coord C1 exon
chr9:137721822-137721890
Coord A exon
chr9:137721891-137726816
Coord C2 exon
chr9:137726817-137727050
Length
4926 bp
Sequences
Splice sites
5' ss Seq
CTGGTAAGG
5' ss Score
9.68
3' ss Seq
CAACACCCCTGTCCCCCCAGCTC
3' ss Score
7.3
Exon sequences
Seq C1 exon
GCCAGAATCACTTCTTGGCCCAAAGAAAACCCGGGCTCCTGGTTCAGTGAATTCAAGCGTGGGAAACTG
Seq A exon
GTAAGGTGGCCTCTGGCGTCTTTGCGGTTGTCACTTTAAACCCGCCCATCTCGTATCTTACAGAGTAAAATGGCCCGCTGGCCCAAAGAGCAGCCTTCCACCTGGTATAGTCAGTACAAGCGGGGGTCCCTGGTAAGTGGCCACCTCGGCCCGGCCACCTCGGCACTGCCTGCTTGCGGCACGGCTGGCTCGCGGCTCTGCATGGCACCCATCGCTGCCATGTGTGCCACACCGCTCTTGCCAAACCGCTCCACATCACGTGACAGCAAGACTCAGCTAGGTGTGGAGTCCTCTCCCCAGCCCCCGCCACCCTGACAAGAGTGTGTTTCTGCCTGGAGTAGGCAGATGGTTTTCCGTTTCTGTGTAGGGCGCGCAGAGCTGGGTGTGGGCCCCAGCCTGAGCTGATCCTCTGCCCACAGACGGTGCAGCCCCAGGCACCTGAGCACTGAGGTCAGACGCTCCAGAAGCAGGAGCGCTTTCACTGTGTCTGATGGCAGGGCAGAGGACACAGATCCCAGACCACTTAAGCCATTCAGAGCTCCTTCTAGGACCTGCACCACGGATCCCCTCTCCCCAGCTGCTCAGGGCTGAGGGCTGTCTCTCTGCCCACCGGGCTGCAGATTCCCAGTTACACTGCACACCACTGTACGAGTCACGTTTTCACTTTTGGGGATCGAGTCTTACAGAATCCATCCCTGAAAGGAAACGACATTGGCCTCCCAGGAAAGAACCACATAGGAGGTTCTTCTGGCCGGTGTAGTGCCCAAGAGCCAGTTTGGACACATTGATGTGAGGACAGCGGCTGCTTCTGCCGCGTGGAGTGCCCCTAGGAACCCCACCGGAGTTTGATTTGGGCCCTCTCCTGGAATGAAGAGCAGAGTTCTGTCTTTTCTCCCAGCAAGTTAAAGGACCAAGGTTCCAGAACACAAGACGGGTTCCGGGTGTCATTTATGGCCCAGATTCTCCTTTCCCTCCCTTCTTGGGATCCAGTGGCCCCACTCCCAGGTGGTCCTCAAAGGAGGGCCTTGCTCTCAGAAGGCAGCCCGTGGGTTCTGCGGCTTGTAGCCTGACCACTTGCCATGGGTTGCTGCACCCTGGCACCAGCCCCAGCCTCCCTGGGTGGACACAGAGCACTGGCCCTGAGCCGCCTTTGCCCTGTCTGCACCTCTGAAGCCCCTCGTCTCATAACCTGAAGGCATTCACAGCTGATTATTCATCTCTCGTGCCCTCATTGTTGTTGGTTTGAAATCATATACCAGCTCCTTTGCAGACACTCCGAGGGTCTGTGCTCACCGTGGCTGTGTTTCTGGAGGCTTCCCGTTTTGTGGTTTGCCGTGGACTTGCAGTCCTCTCCTCCTTTCCTCTCCTGCTTTTCCTTTTCCCCGCCTCCTCTGTGCTGTGTTCCAAAAAGAGCTGCTGGCATACAGAAGGACCTGAAACACCCGGGGACAGGGAGGGCCCGGGACCAGGGCTGCTTGGCCCGGAGGGACAGAGCGTAGGGGATGCTGATGTGTGGGATCAGGCAAGGAAGGGGCCCTGGGGGTGAAGCTGCTGGGGGCCGAGGTGGCAGGGTCCATTCTGCAGTCTTGCGGGTAGTTACCGCCTGCGCTTGGCACTGCCCTCTCCCCGCAATGACAGCTCTCAGCCTCCAAAAAGAGCCTCTCACAGCATCCTCCAAAATGGGAAAAGCAGAAAGAGCCTATTTTCCTCGCTTGGAGGAAATGGCTGTGAAACCTCATTTGCAGCCTTCAGCCCGAGTAGCCCATTTCCACCTCTCGTCCTGTTCCACAGAGAGTTAATGAAGGTTGGGGTGAAGGGACGACCCAGGGAACACATCAGCTTACTTTAGGATCTTTCCACGGCCTTATTTCTAGCTCTGTGAATATCATACGTGGACAAGAGGTAGATGGGGGCCTCTCAAAGATACCCAGATTTTTCAGCCAGGTGCAGGGGCTCATGCTTATAATCCCAGCACTTTGGGAGGCTCAGGCGGGCAGATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATACCAAGACTCCATCTCTATTAAAAAACAAAATGCAAAAATGGGCTGGGCAGGTTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCAGGAGTTTAAGACCAGCCTGGCCAACGTGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATAGTGGTGTGCACCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCATCCTGGGGGACAGGGTGAGACTCCGTCTCCAAAAAAAAAGAAAGAAAAAACCAGAAATGGGAATTTTATCTGGGCAGGGCTACCCACACTGCACCATACTGAGAGAATACTGCAGAGAATCCCTCCCACCAGGAGAGCAGGGCCTCACTGTGGGACCCTGGGGTTCCAATGCAGGGCAGCGTGCCCCATGCCCCGGGCCCCCCTGCTGCCCCATGGGCACTGGGGGCTTCAGGTCCTTCTGTGTCCGGTGCTGCCCACCGCCGCTCCCTGTGGTGCACACTCTTCCTCGAGTCAGTCACGTTCCCTCCCAGAAGGAGCGCCGGACGGCCCAGCCTGTCGGTTGGTATTCACTTTTCCTCCTCAAGGTTTGCCCGTAAGGTTCTCGTGGCTGCGTCTGAAAGCGTGGAGTTCGCCGATAGCCCTGGGACTGCAGCGTGTTCCCTCGCCCCTGGGAAGGCCCAGGCCCCAGGCCAGCTGCTCACTTTGGGCTTTTTCTAGTGGCATCTGTTGAAAAAGTGGGTCCTGCAGTGTGTTCACCCTCTTCCCACTCCCGGTGCCCAAACACTCTTGGCAATACTGAAGTCAGTTCCCTTCCTCTGTTCAATGGGGCTCTTTCGGAGCAGGCCAGAGGCAGGGTCCAAAACACACCACCACGAGGCAGCGGTTGCATAGGAGTGGGCAGAGCAGGTCTCAGGTGCTGGCTTTAGCCTGCTTCATTCCCTGATGCTGCAAACAGGACAGGCTGCCCTGCCCAGCCAGGCCTTCCCTGCAGAGAGGGTCCTTCAAGGTCCTGCCTAGGCCAGGAGAGATGTGTGCTTCATTTCGGGGAGCTAAGATGCATCGATGTCCCCTGGAAGTGTCAGGTTTTTCAGAAACCTTGAGTTGGCAACAGAGATGCAAAAGTGAGATGCATCATGGCTCAGGATGCCCTGCACGGGCCTTGCACCTGGTGGAGCTGAGCAGCCCAGTCCTGGATACCCAGCTAGTGATGCTGGAGAGGCCACCTAAGAAGCTGCACATTGTCCTCTGATGCCTTCCCTGGATTTGTGCAGAGACTGGGAGGGCTTTCAGGGAGGATCAGTGTCATCAGAGTCCCGGGCTGACCTTTGGCACAGGCAGGGCAGGCAGATGGAGCCACTCCTGTCTCAGGAAGCCTGCTCACTGCCCTGAGGAGACGCTTCTGGGAAGGGGAGGAGTGGTCTTTCTTGAGTGGCCATGCCAGACATCATCCGGGACCCCTGTGCCTCCAGGAGGATCCCCGGTCACCCCAGCCATCTGCACAGCCCTGACCCTCCCTCAGGCTCGCCTCCCCTGAGCACCTCACTACAGCTGGCCCGCTCACTCCCCGAGGCCTCGTGCCCCGTGGCTCCAGCTGCTCACAGTCTCCCTGGCCAGGGCCTTGTACATCCTGGGCACCCAGCAGATGGTCGTTTGTTCACATAATCTTGTGAGCACCTTCCTTTGCTGGTGTTGGAGCATGATGATAGGGACAGGGGGCCAGAGCTGGAGTGGAGGGACATCGGGAGGGCTGGGATACAGATCAGGGTCCCTAAGCCAGCCCTAGAGGCTGGAGGTGGGGAGGAGCCTTCCCTAGGAGCAGTGGTCTAGGCTGTGACCCAAAGGACAGCAGTGGGGGCACCTCCTGCCAGGTGGGGAGTGTCCCAGGCCGAGGGAGGAGCCGTGCAGTGGCTCAGGGGCAGAAGGAGGACACCTGCTGTCCAGGGCTCAGGGAGAAGTGTGGTGCAGCTGGGAGGGGGCTCTAAGACCTCCTCCTCTCACCCCCAGGGAACCTAATGCCCCTCTCTGGCCCTGCACCCCTCTACTCAGGGGAAACCAGGGCTCGCCTGCTGCTCCAGGTGCCCCGACCCAGCGATCGGGTGCAGAGCTCTGCGTTTCAGGAATGAGAGGCAGGTCTTCATGCAAGCCATATTTTTGAGAATGGTTCTCTGTTCACTCAACACATACAAACCTGGCAGACCCAGATCACCATCTGGGATGGAGGCACCCAGGTGGCAGAAGGGGAGAAGAACTGTGGGTGGACGTGCAGGGAGAGCAGCTGCAGCTGGCACTGCAGTGGGTGCTGGCCCAGGAGACACTGGCTGCCGTTCACCATGCAGCAAAGCTTTATCAAGCGCACACTGGGCAGCCATGGGGCGGGTACCACGGCCAGTAACGAGCAAGAAGGATGCCATCCTGCCCTCTCTGAACTTATAGTCTGCTAGGGAAGACAGACACTGTGACAAACTAAGGTTGGGGAGGGCAGCCACAGAGTAGGTGCAGGAGCATCTATTCTGGGTAGGCTTCCTGGAGGAGGCAGCACAGGTGCCGAGCCCTGAAGGATAAGCATAAGCCAAGAGAAGTGGGTGGATTATTTAAGGCCCTGAAGGACATGAGGCATGGTTCCCTTTGTTCCTGGGAACACGCAAGAGAGCCCATGTGCGCTGGCCTCGGCCGGGTCTGTGGGTACAGTGCGTTTCCAGGTAGTTCCCCCGAGAAGACCACAGTGTGAGTGAAGCCCAGGGCAGTGCGGACGTGGGGCTTTGTTGCTGTGTGTGTCCCCACCCTGCTGAGCCCCAACACCCCTGTCCCCCCAG
Seq C2 exon
CTCTCCTATGTGGACGCCGAGGGCAACCCTGTGGGTGTGGTACAGATGACCTTCCTGCGGCTGCTGAGCGCCTCTGCCCACCAGAACGTCACCTACCACTGCTACCAGTCAGTGGCCTGGCAGGACGCAGCCACGGGCAGCTACGACAAGGCCCTCCGCTTCCTGGGCTCCAACGACGAGGAGATGTCCTATGACAACAACCCCTACATCCGCGCCCTGGTGGACGGCTGTGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-COL5A1:NM_000093:64
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.130 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0141013=COLFI=FE(10.4=100)
A:
NA
C2:
PF0141013=COLFI=FE(36.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
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