MmuEX6100006 @ mm10
Exon Skipping
Gene
ENSMUSG00000026815 | Gfi1b
Description
growth factor independent 1B [Source:MGI Symbol;Acc:MGI:1276578]
Coordinates
chr2:28611419-28613948:-
Coord C1 exon
chr2:28613677-28613948
Coord A exon
chr2:28612781-28612918
Coord C2 exon
chr2:28611419-28611584
Length
138 bp
Sequences
Splice sites
3' ss Seq
GACTCTTTGCTCTGCCCCAGGTG
3' ss Score
9.51
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
AGGGGCCTCTCGTGACACCCCAACCCCAGGATGGGGAATCACCACTCTCTGAGTCACCCCCTTTCTACAAGCCCAGCTTCTCCTGGGATACCTTGGCCTCCTCCTACAGCCACAGCTACACACAGACCCCCTCCACCATGCAGTCCGCCTTCCTGGAGCGCTCCGTGAGGCTGTACGGCAGCCCCCTCGTGCCCAGCACAGAGTCTCCCTTGGACTTCCGCCTCCGCTACTCTCCAGGCATGGACACTTACCACTGTGTCAAGTGCAACAAG
Seq A exon
GTGTTCTCCACCCCTCATGGGCTAGAAGTGCATGTCCGCCGCTCTCACAGCGGAACCCGGCCCTTTGCCTGTGATGTCTGTGGCAAAACCTTTGGCCACGCTGTGAGCTTGGAGCAGCATACTCACGTCCACTCACAG
Seq C2 exon
GAGCGAAGCTTCGAGTGCCGGATGTGTGGCAAAGCCTTCAAGCGTTCATCCACCCTGTCCACCCACCTGCTCATCCACTCGGACACTCGGCCCTACCCCTGCCAGTTCTGTGGGAAGCGCTTCCACCAGAAGTCGGACATGAAGAAACACACCTACATCCACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000026815-'7-11,'7-8,8-11
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.258 A=0.185 C2=0.218
Domain overlap (PFAM):
C1:
NO
A:
PF134651=zf-H2C2_2=WD(100=58.7)
C2:
PF0009621=zf-C2H2=WD(100=41.1),PF134651=zf-H2C2_2=PU(38.5=17.9)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGATACCTTGGCCTCCTCCTA
R:
CAGGGTGGATGAACGCTTGAA
Band lengths:
244-382
Functional annotations
There are 1 annotated functions for this event
PMID: 27486782
Whole-exome sequencing identifies a GFI1B variant associated with low platelet counts. By performing CRISPR/Cas9 genome editing in hematopoietic cell lines and follow-up targeted knockdown experiments in primary human hematopoietic stem and progenitor cells, th authors demonstrate an alternative splicing mechanism by which the GFI1B rs150813342 variant suppresses formation of a GFI1B isoform that preferentially promotes megakaryocyte differentiation and platelet production.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Ribosome-engaged transcriptomes of neuronal types
- Neural differentiation time course
- Muscular differentiation time course
- Spermatogenesis cell types
- Reprogramming of fibroblasts to iPSCs
- Hematopoietic precursors and cell types