Special

HsaINT0039149 @ hg38

Intron Retention

Gene
ENSG00000188153 | COL4A5
Description
collagen type IV alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:2207]
Coordinates
chrX:108602964-108606892:+
Coord C1 exon
chrX:108602964-108603061
Coord A exon
chrX:108603062-108606741
Coord C2 exon
chrX:108606742-108606892
Length
3680 bp
Sequences
Splice sites
5' ss Seq
AAGGTCTGG
5' ss Score
3.93
3' ss Seq
TTGTCATGTGTATGCTCAAGGGT
3' ss Score
3.87
Exon sequences
Seq C1 exon
GCTTTCCTGGAATTCCAGGACCTCCAGGAGCACCTGGGACACCTGGAAGAATTGGTCTAGAAGGCCCTCCTGGGCCACCCGGCTTTCCAGGACCAAAG
Seq A exon
GTCTGGGACATTTTTCTTTATTCCTTCTCATTTTCTTATCTTTCCCACCTTCCTTATTTCTAGCTCTCTATTTTGACTCAGATATCATCCCAAGCCCCAAGTCTTTACTATAAATATACAGATAACTTATTATATTTCCATTAAAAAAATATTTAACCCCAAATCATCTTTAATAGTCCAAGGTCACATTTGGAGCAAAAAAAAAAAAAAAAAAAACCTAATTTCTGTACCTACTTTTGAATGCCCAGTTCTTTGATTAGAGAATACAGGCATACCTTGGAGATATTGCAGGTTTAGTTCCAGACCACCACAATAAAGTGAATATCAAAATAAAGTGAATCACACAACTTTTTTTGTTTCCCACTACATATAAAGGTTATGTTTACACTATACTGTAGTCTTTAAAGTGTGCGATAGCATTAGGTCTAAAAAAAACCATATGCATACCTTAATTAAAAATACTTTATTGCTAAAAAATTTTAGCAATCATCTAAGCTTGCAGCAAGTTATAATCTTTATGCTGGGGGAGGGTTTTGACTCAATATTGATGGCTGCCCACTGATCAGGGTGATGGTTGCTGAAGGTTGGGTGGCTGTGGCCATTTTTTTAAATAAGACAACAATGAAGTTTGCCACATCAATTGACTCTTCCTTTCAGAAAAGATTTCTCTGCAGCATGTGGTGCTGTTTGATGGTATTTTACCCACAGTAGAACCTCTTTCAAAATTGGAGTGAGTCTTCTCAGACCCTGCTGCTGCTTTATCAACTAAGTTTATATAATATTCTAAGTCCTTTAGTGTCATTTCAACACTGTTCCCAGCATCTTCACCAGGGTAGATTCCATCTCTAGAAATCACTTTTGCTCATAAGAAGCAACTGCTCATCTGTTCTACTTTTATTATAAGATTGCAGCAATTCATTCACATCTTCATTCTCTACTTATAATTGTTGTTCTCTTGCTACTTCCACCATATTTGCAGTTACTTACTCCATTGAAGTCTTGAAACCCTCAAAGTCATCTGTGAGAGTTAGAATTAACTTCTTCCAAACTCCTGTTAATATTGATGTTTTGACCTCTTCTAATGAATCCTGAATTTTCTTCATGACATCTAGAATGAAACCCTTTTCAGAAGGTTTCCAATTTGTTTTGCCAGATCCATAAGAAGAATCACTATTTATGACAGCTATACATTACACAATGTGTTTCTTAAATAATAAGACTTGAAAATTAAAAGCACTCTTTGATCCATGGGCTGCAGAATGGGTATTGTGTTAGCAGCCATGAAAAGAACATTCATCTCTTTGTACATCACCATCAGAGCTCTTGGGTGACTAGGTGCATTGTAAATGAGCAGTAAAATTTTGAAAGGAATCTTTTCTTCTGAGGAGTAGGTCTCAACAGTGGGCTTAAAATAGCCAGTACACTATGCTTTAAATACATCTGCTGTCATCCAGGCTTTATTGTTCCACTTATAGAGCACAGGCAGAGTAGATATACCATAATTCGTAAGGCCCTAGAATTTTTAGAATGGTACATAAGCATTGGTTTCAACTTAAAGTCAGCAGCTGCATTAGTCCCTAAAAATAGAGTCAGCCTGCCTTTTGAAGCTTTGAAACCAGTAATTTACTTATCTTCTCTAGCTATGAAAGTCCTATGAGCATTTTATTCCAATAGAAGGCTGTTTCATCAACATGGAAAATCTGTTGTTTAGTGTAGTCACTTTCATCAATGATCTTAGCTAGAACTTGCTGCAGCTTCTATATCAAAACTTGCTGCTTCACCTTGCACTTTTATGATGTGGAGACAGCTTCTTCCCTTAAACCTCACGAACCAGCTTCTGCTAGCTTCCAACTTTTCTTCTGCAGCTTCTTCACCTCTCAGTCTTCAGATAATTGAAGTTAGGGCCTTGCTCTGGATTAGGTTTTTGCTTAAGGGAATGTTATGGCTGGTTTGATCTTCTGTCCAGATCACTCAAACTTTCTCCATATCAGCAATAGGGCTGTTTTACTTTCTTCTCATTCGTGTGTTCACTGGAGTAGCACTTTTAATTTCCTTAAATAACTTTTCCTTCACATTCACAACTTGGCTAACTGTTTAGTGCAAGAGACCTAGCCTTCAACCTACCTTAGCTTTTGACATGCCTTCCTCACTAAGTTTAATTATTTCCAGCTTTTGATTTTAAGTGAGAGACATGTGACTCTTTCTTTCACTTGAACACTTAGAGGCCATTGTTGTGTTATTAATTGGCCTAATTTCAATATTGTTATGTCTCAAGGAATAGAAAGACCTGTGGAGAGGGAGAGAGATGCGGGGAAAATGGCTGATCAGTGGAGCAGTCAGACATTTACAACATTTTTTTATTAAGTTCACCATCTTATACAGGCACAGTTTATGGTACCCCAAAACAATTATGTGGTAACATCAGTGATCACATATCACCATAACAGATATAATAATAATTAAAAAGTTTGGAATATTGTGACAATTACCAAAATGTGACACAGAGACAAAAAGTGAGCACATGCTATAGGAAAAATTGCGCTGATAGACCTGCTCAATGTAGGGTTGCCACATACCTTCAATTTGTAAAAAGTGCAGTGTCTGCACAGCACAACAAAATGATGCACAATAAAATAAGGTATGCCTGTACGATGGTCTGCTCCCTCTGTGCATCTCTATAGAGTCATCATCCCATGTCATCTCTGTTCATGCCTGTGTGATGATTGGTTGAAATGGTGTTGAATATCATTTCCAGACCTTGTATACTGTTGTTCTCTGTCCCAATTCCATTACAGATACATAATGCAAATCACTGCAATTGACTTAGTAATACTAATAATAAATAATACTGTGTTTGAGTTACTTTTCATTCCTTTTATTATTTCTTATCTAATGTTAAGCTTTCCTGAGTCAACCTTCAGCAAAGAGCTGCTGTGGCATGTAATTATCGTGACTATTTTTATATATTTTATCTCTGCGTCATTGATTTAAACCTCCTGTGTTTTGTAATTATTACTTATTTTTCATGGGAAAAACAGTTAACCCGTGACACCAGTTCTCATGAGAAAACCACTTCTCTATTGGTTGATTCTCTTTATTATGAACATTTTCAAATGAAAATAAAAGTAAAATGAATAATACAATGAGCTTTCACATATCCATCACCCAGATTCAAAATTATTATGATTTTATAACATTTGCTTCATCTAGTCCTTTTTACTTTGCTTAAATATTTTACCCAAATCTCAACACAGTATCATTTCACTTATAAATGCATCAGCACTCATCTCTAAATAAATTGACATTTTATACAAAAACCACAATGTTGTTATCATACTTAGTAAAATTAAAAATAATTGTTTAGTATTATCTAATACTCAGCCTATAATCATATTTCCCTACAAGGGTAGTCTGTTCTTTAATCTCATGCTCTCTCAGTTTTTTTTTTTTATCCTGAAACCAGTCCAAATCATCTAATTTGTTTTACTAAACCCTGTTTCCAATCCTTCCATATGTTTTCTCCAACATACCAATTACTTTTTATTTAATTATCTTCTCCTCTCCCCCCATGGAAGGAAAAGTATTGTCTTGTATTTTCGGCATTAAATTCTCTGTGGCAAACAATAAGGACAGAAAAGTCATGGGAGTTTTTGTTGTGTTTTGTCATGTGTATGCTCAAG
Seq C2 exon
GGTGAACCAGGATTTGCATTACCTGGGCCACCTGGGCCACCAGGACTTCCAGGTTTCAAAGGAGCACTTGGTCCAAAAGGTGATCGTGGTTTCCCAGGACCTCCGGGTCCTCCAGGACGCACTGGCTTAGATGGGCTCCCTGGACCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188153:ENST00000361603:28
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=FE(52.5=100)
A:
NA
C2:
PF0139113=Collagen=PD(27.9=33.3),PF0139113=Collagen=PU(70.3=88.2),PF0139113=Collagen=PU(34.5=58.8)


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

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development