Special

HsaEX0059857 @ hg19

Exon Skipping

Gene
ENSG00000050438 | SLC4A8
Description
solute carrier family 4, sodium bicarbonate cotransporter, member 8 [Source:HGNC Symbol;Acc:11034]
Coordinates
chr12:51857398-51863572:+
Coord C1 exon
chr12:51857398-51857498
Coord A exon
chr12:51860189-51860296
Coord C2 exon
chr12:51863398-51863572
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_MULTIEX2-3/13=2-5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.798 A=0.708 C2=0.000
Domain overlap (PFAM):

C1:
PF0095516=HCO3_cotransp=PU(1.2=17.6)
A:
NO
C2:
PF0095516=HCO3_cotransp=FE(11.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
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