Special

HsaEX0059862 @ hg38

Exon Skipping

Gene
ENSG00000050438 | SLC4A8
Description
solute carrier family 4 member 8 [Source:HGNC Symbol;Acc:HGNC:11034]
Coordinates
chr12:51474342-51485900:+
Coord C1 exon
chr12:51474342-51474447
Coord A exon
chr12:51475045-51475206
Coord C2 exon
chr12:51485787-51485900
Length
162 bp
Sequences
Splice sites
3' ss Seq
CAGAATGCTTATTCCTCCAGGAA
3' ss Score
6.63
5' ss Seq
AGAGTAGGT
5' ss Score
4.84
Exon sequences
Seq C1 exon
CTGCAGGTGTACTCTGCCAGAGAATCCAAACAATCACACCCTCCAGTACTGGAAGGACCACAACATCGTGACAGCAGAAGTCCACTGGGCTAACCTGACTGTCAGT
Seq A exon
GAATGCCAGGAGATGCATGGAGAGTTCATGGGATCTGCGTGCGGCCATCATGGACCCTACACTCCTGATGTCCTCTTTTGGTCCTGTATTCTCTTTTTCACCACCTTCATCCTCTCAAGCACCTTAAAGACGTTTAAGACGAGCCGTTATTTCCCAACCAGA
Seq C2 exon
GTACGCTCCATGGTGAGTGACTTTGCTGTTTTCCTCACTATCTTCACAATGGTGATTATTGATTTTTTGATTGGAGTCCCATCACCAAAGCTTCAAGTTCCCAGTGTGTTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050438_MULTIEX1-4/4=3-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

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

C1:
PF0095516=HCO3_cotransp=PD(19.3=79.3)
A:
PF0095516=HCO3_cotransp=FE(10.3=100)
C2:
PF0095516=HCO3_cotransp=FE(11.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CTGCAGGTGTACTCTGCCAGA
R:
TGAACACACTGGGAACTTGAAGC
Band lengths:
218-380
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development