HsaEX0059857 @ hg38
Exon Skipping
Gene
ENSG00000050438 | SLC4A8
Description
solute carrier family 4 member 8 [Source:HGNC Symbol;Acc:HGNC:11034]
Coordinates
chr12:51463614-51469788:+
Coord C1 exon
chr12:51463614-51463714
Coord A exon
chr12:51466405-51466512
Coord C2 exon
chr12:51469614-51469788
Length
108 bp
Sequences
Splice sites
3' ss Seq
TCCCCCCACACTTCAAACAGGTT
3' ss Score
9
5' ss Seq
CGGGTAAGT
5' ss Score
10.75
Exon sequences
Seq C1 exon
GAGAAAAGGAAAATGCCTGGAGTTCCAAATGGAAATGTTTGCCACATAGAACAGGAACCACATGGGGGTCACAGTGGGCCAGAACTTCAGCGCACTGGGCG
Seq A exon
GTTTCTTCCAAAGTATACCAGACAAATGGATGGCTGGCCTGTTTCTAAAGCCCTCCAGGGAAGGGCTCCTTAAGTCAATGCTCCAGAGCCTAGTGACCCTCTACGCGG
Seq C2 exon
GCTATTTGGGGGCTTGGTGCTGGACATCAAGCGGAAGGCCCCCTGGTACTGGAGCGACTACCGAGATGCACTCAGCTTACAGTGTTTGGCTTCCTTTCTGTTCCTGTACTGTGCCTGCATGTCACCTGTCATCACCTTTGGGGGACTGCTTGGAGAAGCCACTGAGGGACGCATA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050438_MULTIEX2-3/4=2-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.812 A=0.708 C2=0.006
Domain overlap (PFAM):
C1:
PF0095516=HCO3_cotransp=PU(1.2=17.6)
A:
NA
C2:
PF0095516=HCO3_cotransp=FE(11.3=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
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:
AGGAAAATGCCTGGAGTTCCA
R:
AGTCCCCCAAAGGTGATGACA
Band lengths:
242-350
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