Special

HsaINT0056233 @ hg19

Intron Retention

Gene
Description
endoglin [Source:HGNC Symbol;Acc:3349]
Coordinates
chr9:130580399-130581111:-
Coord C1 exon
chr9:130580995-130581111
Coord A exon
chr9:130580657-130580994
Coord C2 exon
chr9:130580399-130580656
Length
338 bp
Sequences
Splice sites
5' ss Seq
CAGGTACCT
5' ss Score
8.16
3' ss Seq
GGCCCTACCTACCCATGCAGGTC
3' ss Score
7.69
Exon sequences
Seq C1 exon
AAAAAGGTGCACTGCCTCAACATGGACAGCCTCTCTTTCCAGCTGGGCCTCTACCTCAGCCCACACTTCCTCCAGGCCTCCAACACCATCGAGCCGGGGCAGCAGAGCTTTGTGCAG
Seq A exon
GTACCTGGCATGCCTGTCACCCCTCGGGCCTCCCAGCTCCTGGAACTTCCTCTCCGCCTTTCTTCCCACCATGACTCCAGAGGAGATGAGACTCCCAGAGTCAGGAGGGAGACAGCCTGGGTGCACGGGAGAGGGAGAGACAGAGAAGGCATTGCTCAGGGACACTGACAAGGATGTGGCCCTGTCCTCCTCCTCTGCCCCAGACAGGTCCATGTCTTTCTTTCCACTGTGAGGACTCAGGGGTGGGAACTCTTAATTCTAGCCGATATTTGAAGGCAGCAGGTGGGGTGGGGTGAAGAGCAGCTGCCCATGCCGCGTGGCCCTACCTACCCATGCAG
Seq C2 exon
GTCAGAGTGTCCCCATCCGTCTCCGAGTTCCTGCTCCAGTTAGACAGCTGCCACCTGGACTTGGGGCCTGAGGGAGGCACCGTGGAACTCATCCAGGGCCGGGCGGCCAAGGGCAACTGTGTGAGCCTGCTGTCCCCAAGCCCCGAGGGTGACCCGCGCTTCAGCTTCCTCCTCCACTTCTACACAGTACCCATACCCAAAACCGGCACCCTCAGCTGCACGGTAGCCCTGCGTCCCAAGACCGGGTCTCAAGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000106991-ENG:NM_001114753:11
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.012
Domain overlap (PFAM):

C1:
PF0010018=Zona_pellucida=PD(8.3=17.9),PF0010018=Zona_pellucida=FE(26.0=100)
A:
NA
C2:
PF0010018=Zona_pellucida=FE(58.2=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACAGCCTCTCTTTCCAGCTG
R:
GTCTTGAGACCCGGTCTTGG
Band lengths:
348-686
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development