Special

HsaINT0039146 @ hg38

Intron Retention

Gene
ENSG00000188153 | COL4A5
Description
collagen type IV alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:2207]
Coordinates
chrX:108598702-108601485:+
Coord C1 exon
chrX:108598702-108598870
Coord A exon
chrX:108598871-108601392
Coord C2 exon
chrX:108601393-108601485
Length
2522 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
3' ss Seq
TGATTTACTCTTGCTTTCAGGTC
3' ss Score
10.64
Exon sequences
Seq C1 exon
GGTGGAATTACTTTTAAGGGTGAAAGAGGTCCCCCTGGGAACCCAGGTTTACCAGGCCTCCCAGGGAATATAGGGCCTATGGGTCCCCCTGGTTTCGGCCCTCCAGGCCCAGTAGGTGAAAAAGGCATACAAGGTGTGGCAGGAAATCCAGGCCAGCCAGGAATACCAG
Seq A exon
GTAAGTTTACTGTGTTTTGTTTTAAACTTGGTGCTTAAAAACAGAAATTTATTATGTTTTGGCTACTCATGGCTTCCTTTCCCGAGAGGTGTGTTTCCCTGGCCGTTTATATTTGAACTCTTCAGAGCATCTTAGCAAGGGATCACAATGGTTTTTATAAGGGGGTTTCTTTTTAAATCTTTTCTAACTGTTTCATTGTTACTGTTAATTTTGCTCTTTTTAAGTACATGATACATAATGCAAAGTTTAATAAATAGTTATAACAGAAGCACACAGGTAGCTACCACACACATCAAAAAATAGAATGTTACCAGCATCCTAGAAACCCCTAACCTTTTCTCCCTGTCATTTCCTAATCACAATCCCCTTCCTCCTGTCTGCTGTCTTGACTTTTACATAGTTTTCTTCCATTACCCCTCTGTTTTATGACCTCTGTATGCATTTTTAAACAGAGTATTTTAATTTTGTTTCTTTTTGAACTTCATGTTAAAGGAATCATAGGGTAAGTGTTTTTTATATTAACTTTTCGTGTGGCTATAGTGTATTCATTTTTATTGCTATATAGTATTTCATTGTATGTATGTTTATGTGTGTGTGTGTGTGTGTGTTACAGTTGATTGATCCATTCTATGGTTAATGGTTAATTGGGTTATTTACAGTTCAGGTCTATTATGAATAATGCTTCTGTTTACAGTCATATAGATAGATAGCTAGGTAGATAGATAGATCCCTATATCTCCTTGTGTTCATGTGCTCACACTTCTCTAGGGCAAGAGTTGGCACACTACAGAACTACAGTCCATGGACCACATCCAGCCTACCACCTGTTATAAATAAAAGTTTTATGTGAACACTTCCACAACCATTCACTTTTGTCTGTGGTTGTTTTTGCACTACAACTGAAGAGTTGAGTAGTTGCTACAGAGACTGGATGGTCCACAAAGCCTAAAGTATTTACTCTGGTCCTTTACACAAAAGGCTTACCAATACCTGGGCTAGGGTATGTATTTAAGATTAGCATTTTCAAAGCATAGGATAAGTGCATCTTCCACTTGACTGGATAATTACAAACTCTATCCAGACCAATTGTACCAATTTTTACTACCACAAGCAGTGTTGAATATTTTATGTTGATTTACATCCTTGGAAACAATTTGTATTGTCGGACTTTTACACTTTTGCCAATCTGTTGAGTGTGATATTTTGCATTTCTCTGATTAAAGTTTAGCACCTTTTCATGTGTTTATTGGTCATTTGAATTTGCTTTTGTGAAATGCCTAATCAAGTACTTTGACCAATTTTATATTGGATTATTTCTTTTTTTATTGATTTAGAGGAGTTCTTTATATATTCTGTGCATTAGTTCTTAGTTACCTATGTATTTTGCGAAAAGAAATCTTTACCTACTGTGGCTTGCCATTTTTACTCTTTGTTTGGTGTCTTCAATGAGCAGAAAACAACTTTCACATCATCAAAATTATCAATCTTTTCTCTCATGGTTAGTGCTTTTTGTGTCATGTTTAGGAAATCTTTTTTTTCTTGAGCCAATTTCAAGTTCATGTTTCCATTAATAAGAAGTAGATATACTTGAACTTTGCACATGTAAAACCTAAATGTACCTATTAGCCAAAAAAATATTTTCCTTGTTTACTACAGTTTGATTTTTAATGCTCTTTTGGCCTACATTTTAAAAATACTTATATAGGTAACACCCTGTTTTAGGGGTTTCCAGAGAAACAGAACCAATAAAAAGGATGGACAGATGGGTAGATTAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATGAGAGGTGATTTATTATGGGAATTGACTTACATGATTATGGAGGCTGAGAAATCCCACAGTAGGCCACCTGTAAGTTGAAGAACTAGGGAAGCCAGTAGCTTGGCTCAGTCCTAGTCTGAATGCCTGAGAACCTGAGTGGCTGCTTAGTACAAGTCCCAGAGTCTGAAAGCCAGAGAACCTGGAGTTGTGATGTCCAAGGGTAGGAGAGGATGGGTGTACCAGTTTCAAAAGAGAGAGAGCAGAGAATTCACCTTTTTTTCTGCCTTTTTGTTGTATCCGGTCCCTCAGCTGATTGGATGGTACCCACACACATTGGGTGAGGGTGGATCATCCTTATTCGTTTCACTGATTCAAATGTCAGTTTCTTTCGGAAACAGCCTCACAGACATATCTAGAAATAATGCTTTACCAGCGATCTCAGTATCTCTTAATCTAGTCATGTTGAAACCTAAAATTAACCATTATACATCTTGAATCATGGAAGTCCTTAAGGCTGTCATATCCTTTTTCTTTTTGAAATTCTATCCTTCTGTTTTATATATTTCTTGAATATATAGTGGAAGATTGTTTTTCTTGTGAATTTTTGTTAGTTTACATTTTCAAAAGATTGCTGATAATTTTCTTTTTTGTTTTTAATTAAAAAGAGACCTTTAGTTGAGTAAATACTTCTCATTTACCATTGATTTACTCTTGCTTTCAG
Seq C2 exon
GTCCTAAAGGGGATCCAGGTCAGACTATAACCCAGCCGGGGAAGCCTGGCTTGCCTGGTAACCCAGGCAGAGATGGTGATGTAGGTCTTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188153:ENST00000361603:25
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(12.2=10.5),PF0139113=Collagen=PU(83.9=91.2),PF0139113=Collagen=PU(1.7=1.8)
A:
NA
C2:
PF0139113=Collagen=PD(15.6=31.2),PF0139113=Collagen=PU(51.8=90.6)


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