MmuINT0057435 @ mm9
Intron Retention
Gene
ENSMUSG00000026814 | Eng
Description
endoglin [Source:MGI Symbol;Acc:MGI:95392]
Coordinates
chr2:32536716-32538189:+
Coord C1 exon
chr2:32536716-32536817
Coord A exon
chr2:32536818-32536956
Coord C2 exon
chr2:32536957-32538189
Length
139 bp
Sequences
Splice sites
5' ss Seq
CACGTGAGT
5' ss Score
9.3
3' ss Seq
CCTTCACCCACGCCCCTCAGGTG
3' ss Score
7.7
Exon sequences
Seq C1 exon
GTAAAGGCCTTGTCCTGCCCTCTGTACTGGGTATCACCTTTGGTGCCTTCCTGATTGGGGCCCTGCTCACAGCTGCACTCTGGTACATCTATTCTCACACAC
Seq A exon
GTGAGTATCCCAAGCCTCCACCCCATTCCCACAGCAAGCGCTCAGGGCCCGTCCACACCACCCCGGGGCACACCCAGTGGAGCCTCTGAAGAAGCGGGGAGTCCTGGCTGGGGCCCTGACCTTCACCCACGCCCCTCAG
Seq C2 exon
GTGGCCCCAGCAAGCGGGAGCCCGTGGTGGCAGTGGCTGCCCCGGCCTCCTCTGAGAGCAGCAGTACCAACCACAGCATCGGGAGCACCCAGAGCACCCCCTGCTCCACCAGCAGCATGGCGTAGTGCCCAGCCTGGAGCCTCGGGGAGCCCCCCAGCCAGCCCTTGCCCTGCAGGAGAGACCGAGCAGCCACAAGCTGGAAACCACCGGCCATGAACTTGTCCCAGGAACCAAACACCTCCCCTGCACCTGTTCATTCCTCCCAGTGGAGACTTCAGATTGGAATACCTTGGGATCTCCTCACCCCACTTTACAGAACTGCCCAATCCAGGGGCTCTGGGATATGGCTGCCCGGGATTACAGAAAGACACGGCACTGCCGTGCACACCCATGCTGCTTAGAAGCCTAAGCCTCTGCCTTCAAGCTGGATCCTGTGCAGGGTGGGCAGGCAAGAACTCAGACATGCCCAGCCTAGCCCAGGGCGGCCTGCATCTGGCCCCAGAAGCCTCCTCACCTGGACTGGCACAACTTCGGTTGGGGAAACAGAAGCTGAGGGAGCTTAGATGGGGTGGGGGATCCAAGCCCCTCCCAGCCCACCCATTGGCCAGGCAGCAGGGGGGAGTGGCCAGGCGGCTGGTTGTGGGCCAAGTCCTGCATATTCACTAATAAATCAGACATGAAACCAGTGCCCCTCTGGGTTGTATGGGAGAAGAGGAAGATGGGCAATTATGTCACAGAACAAGGGTGCACACCCCTTTGGTCGGCATGGTAGCAGACAGCCAGAGCCCATGTGTGGAGGAAGTCAGTTCTCTCTGCTGCTTGCTCATTTGGTAGCCCAACCTTGGGTCAGAGGGGACAGAAACCAAACACTAAAAAGCCCTGTCTACAGTCTCTGGGACACAGCTACCCCTATAAAGTTCTGGGTTCTAATCCTGTACATGACTCTTGTGGGCAATGAGCCTGTGGACAGCTCCAAAGTCAGCCACCCTCCCTCATCTGTAAGATGGGCGTCCAACTTGAATGCATTGTCACCAAGGAGGCTTGCGATGCAGTGCCTTGGTGTGTGACACACAGTGTGCCAGTCTTTCATGACATGAGAGGACTAATCCTAGGCCATACTGTGTTAAACTCCAACCCCCAAATGTCTGATGAGGGAGCTAGGAGAATAGGAGTCAATCAAAAGTTTTGTCATTTATTTACAAAAAATAAAAAATAAAAGGGTTTAAAAGCTTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000026814-Eng:NM_001146348:14
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.053 A=NA C2=0.548
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Human
(hg38)
No conservation detected
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCACAGCTGCACTCTGGTAC
R:
AAGTTCATGGCCGGTGGTTTC
Band lengths:
257-396
Functional annotations
There are 1 annotated functions for this event
PMID: 15806144
RT-PCR analysis showed that L is the predominant endoglin isoform expressed in mouse tissues, although S-endoglin mRNA is significantly expressed in liver and lung, as well as in endothelial cell lines. L- and S-endoglin isoforms can form disulfide-linked heterodimers, as demonstrated by cotransfection of L- and S-endoglin constructs. To address the role of S-endoglin in vivo, an S-Eng(+) transgenic mouse model that targets S-endoglin expression to the endothelium was generated. The lethal phenotype of endoglin-null (Eng(-/-)) mice was not rescued by breeding S-Eng(+) transgenic mice into the endoglin-null background. S-Eng(+) mice exhibited reduced tumor growth and neovascularization after transplantation of Lewis lung carcinoma cells. In addition, S-Eng(+) mice showed a drastic inhibition of benign papilloma formation when subjected to two-stage chemical skin carcinogenesis. These results point to S-endoglin as an antiangiogenic molecule, in contrast to L-endoglin which is proangiogenic.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Pre-implantation embryo development
- Muscular differentiation time course
- Spermatogenesis cell types
- Reprogramming of fibroblasts to iPSCs
- Hematopoietic precursors and cell types
Other AS DBs: