Special

HsaEX0059855 @ hg38

Exon Skipping

Gene
ENSG00000050438 | SLC4A8
Description
solute carrier family 4 member 8 [Source:HGNC Symbol;Acc:HGNC:11034]
Coordinates
chr12:51489700-51495118:+
Coord C1 exon
chr12:51489700-51489951
Coord A exon
chr12:51493704-51493772
Coord C2 exon
chr12:51494945-51495118
Length
69 bp
Sequences
Splice sites
3' ss Seq
TCTTGTCCTTTTGTCTTCAGTTT
3' ss Score
9.55
5' ss Seq
CAGGTATTG
5' ss Score
8.35
Exon sequences
Seq C1 exon
AAAGGCTGTGGCTACCACCTGGACCTACTGATGGTGGCCATCATGCTGGGTGTCTGCTCCATCATGGGCCTGCCCTGGTTTGTAGCTGCAACTGTCTTGTCCATCACACATGTGAACAGCCTCAAGCTAGAATCTGAATGCTCTGCTCCTGGAGAACAGCCCAAGTTCCTGGGCATCCGAGAACAGAGAGTGACAGGCCTTATGATCTTTGTGCTGATGGGCTGCTCAGTCTTCATGACGGCTATCTTAAAG
Seq A exon
TTTATTCCAATGCCAGTACTCTACGGAGTTTTCCTTTACATGGGAGTTTCTTCACTACAGGGAATTCAG
Seq C2 exon
TTCTTTGATCGTCTAAAGCTCTTTGGGATGCCCGCAAAGCACCAGCCAGATTTCATCTACCTGCGGCATGTGCCGCTGCGCAAAGTGCACCTCTTCACCCTCATCCAGTTGACCTGTCTCGTCCTGCTCTGGGTCATCAAGGCATCTCCAGCTGCCATTGTTTTCCCAATGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050438_MULTIEX3-4/5=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=FE(16.1=100)
A:
PF0095516=HCO3_cotransp=FE(4.3=100)
C2:
PF0095516=HCO3_cotransp=PD(6.6=58.6)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGCTGCTCAGTCTTCATGAC
R:
GATGCCTTGATGACCCAGAGC
Band lengths:
180-249
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