Special

HsaINT0056234 @ hg19

Intron Retention

Gene
Description
endoglin [Source:HGNC Symbol;Acc:3349]
Coordinates
chr9:130579428-130580656:-
Coord C1 exon
chr9:130580399-130580656
Coord A exon
chr9:130579483-130580398
Coord C2 exon
chr9:130579428-130579482
Length
916 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
GCTCTCTCTTTCTCCTCCAGGAA
3' ss Score
12.77
Exon sequences
Seq C1 exon
GTCAGAGTGTCCCCATCCGTCTCCGAGTTCCTGCTCCAGTTAGACAGCTGCCACCTGGACTTGGGGCCTGAGGGAGGCACCGTGGAACTCATCCAGGGCCGGGCGGCCAAGGGCAACTGTGTGAGCCTGCTGTCCCCAAGCCCCGAGGGTGACCCGCGCTTCAGCTTCCTCCTCCACTTCTACACAGTACCCATACCCAAAACCGGCACCCTCAGCTGCACGGTAGCCCTGCGTCCCAAGACCGGGTCTCAAGACCAG
Seq A exon
GTGAGTGGGGCCTGGGCCGGCCCCAGCTTCAAGTGGGAGCTTCCAGGTCTGTGGTTTGCAGGAAGGGACATGGCAGCCCACAGGGATGTGGGGCCAGCTGGTGAGGGGCGGAGCCTTAATCAGGCATGTGGCCTGGCAGTCTGGCTGCCAGCAGCACTTTCTGCCACCCGAGAGCTTTCTGGTGGGACTGCTGTGTCTGGGGCACTGGCAGACTATGCAGCTGCCACTGTCCATCTATCCATCCATCCATCCTTTCACTTACCCGTCCGTCCATCCATCCATCCACCCTCCCACCCAGGAATCTAACCACCCGCACATCCATGTAGTATGGTCACCAGTGTAATCTCAAAGAACAGGAGACCTGAGGGAAGAGAGGCGGACAAAGGACACACACTCCTGGCTTTCTGTATTTGCCAGTCACAACACTTCACCATCTGGTGACCCCCACTCTCAGGCAATCTATCCTGGACGCCCCCAGAGTCACCCCCAGGCCCTTGCACAGACAGGCCTCCAGGATTACAAACTTCTCTGGTCATAGGAAGCTAGGGAAGCCTTCAACTCCCCTAAGTGGGCCTCTCCCTCCAGCCAGAGTGAGCCTGGGACTCTGGGCTGACCTGGCTCATAGCTCCAAAGTGTTCACAAGGGTGAGGGATGCATAGTGCTTCCACAGTGCTCCTGGGCATCAAGGCCTCCAGGAACTCACAGGAAACATTTCAGCAGCAGCCAGGGATCGTCCACTAGGCACCCTCCCACAGCACAGATCTTCCAGGACTCACCCAGAGGCATCCAGCTACGAAGCGGTGGAGATGGGATTCAAAGCCAAGGCTCTAGGGTGGGCTGGGGTCACGGAGCCAGGGAGTAAACCTGGAAGCCGCCTCCCAAAGGTGCCACATACTGCTCTCTCTTTCTCCTCCAG
Seq C2 exon
GAAGTCCATAGGACTGTCTTCATGCGCTTGAACATCATCAGCCCTGACCTGTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000106991-ENG:NM_001114753:12
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF0010018=Zona_pellucida=FE(58.2=100)
A:
NA
C2:
PF0010018=Zona_pellucida=PD(2.7=21.1)


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:
CAGAGTGTCCCCATCCGTCTC
R:
AGACAGGTCAGGGCTGATGAT
Band lengths:
310-1226
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