Special

HsaINT1012550 @ hg38

Intron Retention

Gene
Description
endoglin [Source:HGNC Symbol;Acc:HGNC:3349]
Coordinates
chr9:127819622-127820037:-
Coord C1 exon
chr9:127819900-127820037
Coord A exon
chr9:127819661-127819899
Coord C2 exon
chr9:127819622-127819660
Length
239 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
3' ss Seq
CCCTGGCTTTATCCCCGCAGGCG
3' ss Score
11
Exon sequences
Seq C1 exon
CATTTGAAGTGCACCATCACGGGCCTGACCTTCTGGGACCCCAGCTGTGAGGCAGAGGACAGGGGTGACAAGTTTGTCTTGCGCAGTGCTTACTCCAGCTGTGGCATGCAGGTGTCAGCAAGTATGATCAGCAATGAG
Seq A exon
GTAAGAGCTGGGGCCAAAAAGGTATCAGGACCAGCCTGGTTGGTGCCCCCTCAGGTGCCCTCCCTGATCCCCCAGGGTGGAGGTGTGTTTGGGAGAGCAGGCTGCAGGGGCTCAGAACACAAGACAAGCTTGGCCATTGGTTGGCTTAGTCTCCCCATCTGCAAAAATGGGCGTATTGGGTGGGATACCCTCTGGGGTCCTTTCTGGCTCTGACCAGCTCCCTGGCTTTATCCCCGCAG
Seq C2 exon
GCGGTGGTCAATATCCTGTCGAGCTCATCACCACAGCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000106991:ENST00000344849:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0010018=Zona_pellucida=FE(53.6=100),PF0010018=Zona_pellucida=PU(1.4=4.3)
A:
NA
C2:
PF0010018=Zona_pellucida=FE(14.5=100),PF0010018=Zona_pellucida=PU(8.4=92.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTGAAGTGCACCATCACGGG
R:
CTGTGGTGATGAGCTCGACAG
Band lengths:
172-411
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains