Special

HsaINT0039145 @ hg19

Intron Retention

Gene
ENSG00000188153 | COL4A5
Description
collagen, type IV, alpha 5 [Source:HGNC Symbol;Acc:2207]
Coordinates
chrX:107840607-107842100:+
Coord C1 exon
chrX:107840607-107840798
Coord A exon
chrX:107840799-107841931
Coord C2 exon
chrX:107841932-107842100
Length
1133 bp
Sequences
Splice sites
5' ss Seq
CCTGTGAGT
5' ss Score
7.21
3' ss Seq
TTAAACTTTTCCCTTTTTAGGGT
3' ss Score
12.87
Exon sequences
Seq C1 exon
GGCATTCCAGGAGCTCCAGGTGCTCCAGGCTTTCCTGGATCTAAAGGTGAACCTGGTGATATCCTCACTTTTCCAGGAATGAAGGGTGACAAAGGAGAGTTGGGTTCCCCTGGAGCTCCAGGGCTTCCTGGTTTACCTGGCACTCCTGGACAGGATGGATTGCCAGGGCTTCCTGGCCCGAAAGGAGAGCCT
Seq A exon
GTGAGTTGGTTTGATATTTTTGGTTTTGTGATGTTAAATTTTCACTTAGAAATGTTTTCTAAGTTAATTCAAAGGATGGGACTGATGCTGAGATAAACACCCAATCAATGCTTAAAACAATGTGACCATACAGTAATGGCACATTGTTACTGACTACGTAGGGTTTCTGCACTACTCTTTTCTTTCACTTGTTTTGTAAACTTATTTTTCTTAACCCATTAATATTGAATACTATTTTCTATGAATAGGTGGGCAGGAGGTTAAGATGTTTATGAGACAGTATAAGGTTCCCCATCTCTTAACCCCCACATATCTTTCCTTGGGTTTACTTAAACCTCATGACTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGCGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCTGGGCAACAAGAGCAAAACTCCATCACAATAAATTAAATAAATAAATAAATAAATAAACCTCATAACCAGCAGTTTAACTTGTTTCTATATATATAGTAAGCTTAGAGAATAGTACAAGTAGATAGCCATGTTCAATGTGCCACAGAACTGAAAGATTTAACATAAATGAACAATCTTATTTTGTACATAACACACAGCCCAGGATATTTAGGTAGGAAGTGATATTTTATAATGTTATCTAGACTATAACCTTTCTGACTTACACTAAAATGTAAGCTGCATAAAGTCAGAGATTTTTGTGTATTTTTGTTTTCTGTTGTATCACCAGCACTTGACACATAGTAGGAGCCCAAAAATATTTGTTGGAGGAATGAGTAAGTGGAATGATCACACATACCATCTCATAATACCACTCACTTATATAGCTTTTAAGAAGAACTATTTATGGCTATATCCTTTCCCCAGTTGTATTCAGTACCAACCTACAGATAGTTGTTGTATCTATATGTTTCTGTATTAAACTTTTCCCTTTTTAG
Seq C2 exon
GGTGGAATTACTTTTAAGGGTGAAAGAGGTCCCCCTGGGAACCCAGGTTTACCAGGCCTCCCAGGGAATATAGGGCCTATGGGTCCCCCTGGTTTCGGCCCTCCAGGCCCAGTAGGTGAAAAAGGCATACAAGGTGTGGCAGGAAATCCAGGCCAGCCAGGAATACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188153-COL4A5:NM_000495:24
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.960 A=NA C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(33.3=31.2),PF0139113=Collagen=PU(83.7=64.1)
A:
NA
C2:
PF0139113=Collagen=PD(12.2=10.5),PF0139113=Collagen=PU(83.9=91.2),PF0139113=Collagen=PU(1.7=1.8)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCATTCCAGGAGCTCCAGGT
R:
CTGGATTTCCTGCCACACCTT
Band lengths:
342-1475
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