Special

HsaINT0039164 @ hg38

Intron Retention

Gene
ENSG00000188153 | COL4A5
Description
collagen type IV alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:2207]
Coordinates
chrX:108677500-108680751:+
Coord C1 exon
chrX:108677500-108677633
Coord A exon
chrX:108677634-108680678
Coord C2 exon
chrX:108680679-108680751
Length
3045 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGGA
5' ss Score
9.79
3' ss Seq
TAATGATTTTATTTATTCAGGGT
3' ss Score
6.53
Exon sequences
Seq C1 exon
GTCTACCAGGTCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAATCCAGGCCAACCTGGGCTACCTGGCTTGCCTGGTTTGAAAGGAGATCAAGGACCACCAGGACTCCAG
Seq A exon
GTAGGAAATGGAAGTAGATATCTGATGAGAGAAGAATGTGGGTGTTTGTATTCAAAATGTGAATTCTAAGCTGCATCATTTTAATTAACACTCACTAGACAAGGTTCTATGTGTGGCTCACTGGCGAATTAAAAAGACAGTAGAAGGCAAGTTTCCTATAGTCTCCTAAAGGGACTTTGTTGTATTATAGTCAGAGTTCCTGAAAAGATACTTCACCTGGAGTCTTTGGTATGCATATTTGGATTTGAGTAGCCTTCATTTCAGTGAAAGCAAATTTATGCAAAGGAGACATGCATATTAGAGCATTGCATATAGATGAATCCACCCATAGAGAAGTAATTATGGTGAATAGAGGCATCTTTTAGGCTTTGAAATTAGATAAAGTTAGGGTCAAATGTCAGCTCCCCTGCACACTTCTGCTTTGTATCTATGAGGAAAACAGACACTGGGTTTCTGTCTTCACCTATAAAAAGAGAATAATAACATATCCACTCATGTGCTTTCTATGTTGGTTTGAGTGACCCAGAGCAGAGAGTCACATTCCTCTTTATGGGTTCTCAAAACTGCCTCCATTCGGTCAAGATGATTGCTGGTGGATTTGGCAGTCAACACAATCTGGACTGTCTTTTAATTCTGAAGACTGCTTTATGGCAGAAAAAAAGTATTTAAAGTAGTGATCCTTAAAGCTTTTCAAAATCTAATCTTTTTCCCCATGCCATCACTATTCTTCCAGTTACCTAGACTTAAAAATTTACTTCTGTTTACTCATTCTCTACTCACTCCCTATAAATATGCATATTTCCAGAAACAATTAAGAGTAAGTTTCACCTGCTATACCCCTTTACCACTAAATATTTTAATGCAGATTTCTTAAGATTAAAAATATTCTCATGTTTTATTATAAGATGACAATAAAAAGCTATGGGATTGTTTATATTTTATAAAATTCTTACCAAATGTCTTGGCTGCAGCCTGTAATCCTAGCAACTTGAGAGGCTGGGGCAGGAGGGTTGCTTGAGGCCAGGAATTTGAGACGAGCCTGGACAACATAGCAAGACCCTGTCTCTAAATTTTTTTTAATTATATAACCACAGTACACTTATTAACTTCAGAAAATTTAACATAGATATACATTAATTTCTATCTTTCATATTCCAGTTGGGTCCAATGACCTAATAATGTTCTTAGCATTTCTTCTTCCAGTACAGGATCCAGGCCAAGTCATGTTTTGCATTTAATTGTCATATCTCTTTAGCCTTCTTTAATCTGAAACAGTTCCTAAGTTTATTTTCTTTTTTTCATGACCTCGACATTTTTAAGAAATTGTACCACCACCCCCATTTTTAAATAGAATATTCCTTTTTTGCCTGATGTTTATTCATAATTAGATTCAGGTTATGCATCCCCAGCTGGAATACTACATGAGTGGTTCTGTGTCCTTCTCAGGCTAACCGATAAGGAGGTCCATGATGTCTATCTGCTTCTCATTTGTGGTTTTAGTTTTAATCATCCAGTCAAGTTGTTGCTCAGTTTCTCCACTGCATCATTAGGTTTTTCCTTGCAACTAATAAAACTGTAGGAAGGCACATTAAGATAGTGCAAATATACCAATACTCATCAAAAATTTCCCTTAGATTTAACATCTATTAATGATTTTGCCTCAACCAGTCTCTAGTGGGATAGTGGCAAAATGATGTTGTTTCAACTCTAGCACTACCTCCACATATACTAGTCAGTCCTACTGTAAGCAAGAGCCCTCCCTTCTCTCTGGTTTACCTATGCATTTCTTATCATTTTTGACTCATTTTTTCTCATGTTTTCCACTAATTTACAATTTCTAAACTATCATTACTTATTTCGATGCTCTCATTGTTCCAGATTTGGAAGCCCCTTCAAGCTGGATTTGATGTTTTTCTGATATGTACTTCCCTCCAACTATTTTTTTAGCACTTTTTAATATTATTTCATAATAAGATGCTCCAGGCTTGTTCCTCTTTCATTCTTACTAACATAAGCTTCGTTGTCCTGCACTTGAAGTAGAGCAATAGCCTCCTATATGATCTTGCTATTCTATATTCTTCCTGTAGTTGGGTGGCTGAGGGGGGATGATTGTTTGAGCCTAGGAGTTTGAGGCCAGCCTGGGCATCATAGTGAGATCCTATCTCTATAGAAAAGAAAGAAAAAACAAAGAATAAAATAATAGTTACCTTTCATTAAGTACACACCACACACCAGTCTTCTAAGCACTTAATATTGTCAGCAAAAGACAATGAGATCTAGAGGAGAAAAAGGAAGAGCTTTATTTTCTGTAAAAAGTAATCTGCGGATTGGGAAGGCACAGCTTTCTGTACAAGCGAAAGTGTGATCTCTGAAGAACAAAGGGAGGGTTTGGCTTAAGTAGGGAAAGTTCTCACCCATGTTCTCAACCAGGTCCATTTATGCAAATGAAGGATTCAGACTTATCAGTTCTGATTGATTGAAATACTTGAGCCCTGATCAGGTGATTTCCAAAACCAAAGCCAGAAGTCTGCCAGATGTTTCTTTCAAATGGCCAATGGGCAGGGGGTGTGTTCAAGCCACAGTTTATCTTCGCAGTGGTTTGACTTGATTGTACAAAGGGAGATCCTGTGACACTTTTACAACATCTTTCCAAGAACACAAGGTATGTGACATTTCCCTTACCCAACCACGGCCAGTTGGTTGTGTTTTAACTTTGCGCACCTCAGTTAGCCATGGGAAGTTCATTTTGTCTGTCAGCCAGGGGTATATTTTAACAATATGAACTGTCTCATTTAATTCTCACCACAACCCTATGAAGTAAATACTGTTATTTTCTCCAAATTTGAGGTGAGAAAACTATGAATCAAGGAGGTTAAATAATCAACTCAATTCACACAAGATAATATAAGGCAAAATTGAGATTACAGTCTTGGAAGTTTGACTCTAGAAATAGTGCTATATGCCACTATGTAATTCTTATGCCCTCAATCACCTTCCTCCCCTCGCTGCAATTTTTTTGTAACATTAATGATTTTATTTATTCAG
Seq C2 exon
GGTAATCCTGGCCGGCCGGGTCTCAATGGAATGAAAGGAGATCCTGGTCTCCCTGGTGTTCCAGGATTCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188153:ENST00000361603:42
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=PD(57.6=75.6),PF0139113=Collagen=PU(42.3=73.3)
A:
NA
C2:
PF0139113=Collagen=FE(30.8=100),PF0139113=Collagen=PU(32.7=72.0)


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