HsaEX0059851 @ hg38
Exon Skipping
Gene
ENSG00000050438 | SLC4A8
Description
solute carrier family 4 member 8 [Source:HGNC Symbol;Acc:HGNC:11034]
Coordinates
chr12:51461204-51463714:+
Coord C1 exon
chr12:51461204-51461291
Coord A exon
chr12:51462310-51462456
Coord C2 exon
chr12:51463614-51463714
Length
147 bp
Sequences
Splice sites
3' ss Seq
GGGTTTTCTCTTCTCTGTAGATT
3' ss Score
10.01
5' ss Seq
CAGGTAATG
5' ss Score
9.43
Exon sequences
Seq C1 exon
ATTTTTGTTTATCTTATTGGGTCCAGTAGGGAAAGGTCAGCAGTACCATGAGATTGGCAGATCCATGGCCACCATCATGACAGATGAG
Seq A exon
ATTTTTCATGACGTAGCATATAAGGCAAAAGAGCGAGATGATCTCCTGGCGGGGATTGATGAGTTCCTAGACCAGGTGACGGTGCTCCCTCCAGGAGAGTGGGATCCCTCCATTAGAATTGAGCCACCCAAAAATGTCCCTTCCCAG
Seq C2 exon
GAGAAAAGGAAAATGCCTGGAGTTCCAAATGGAAATGTTTGCCACATAGAACAGGAACCACATGGGGGTCACAGTGGGCCAGAACTTCAGCGCACTGGGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050438_MULTIEX2-1/4=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.010 A=0.241 C2=0.812
Domain overlap (PFAM):
C1:
PF075658=Band_3_cyto=FE(11.2=100)
A:
PF075658=Band_3_cyto=PD(13.8=73.5)
C2:
PF0095516=HCO3_cotransp=PU(1.2=17.6)
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:
TTTTTGTTTATCTTATTGGGTCCAGT
R:
CCCAGTGCGCTGAAGTTCTG
Band lengths:
186-333
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development