Special

HsaINT0039146 @ hg19

Intron Retention

Gene
ENSG00000188153 | COL4A5
Description
collagen, type IV, alpha 5 [Source:HGNC Symbol;Acc:2207]
Coordinates
chrX:107841932-107844715:+
Coord C1 exon
chrX:107841932-107842100
Coord A exon
chrX:107842101-107844622
Coord C2 exon
chrX:107844623-107844715
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-COL4A5:NM_000495:25
Average complexity
IR-S
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(14.5=28.1),PF0139113=Collagen=PU(45.8=68.8)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion 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