Special

HsaEX6066570 @ hg38

Exon Skipping

Gene
ENSG00000050438 | SLC4A8
Description
solute carrier family 4 member 8 [Source:HGNC Symbol;Acc:HGNC:11034]
Coordinates
chr12:51458559-51461291:+
Coord C1 exon
chr12:51458559-51458650
Coord A exon
chr12:51459951-51460108
Coord C2 exon
chr12:51461204-51461291
Length
158 bp
Sequences
Splice sites
3' ss Seq
TGTTTCTTTTGGACTTTCAGGTA
3' ss Score
10.02
5' ss Seq
AAGGTAAAG
5' ss Score
9.06
Exon sequences
Seq C1 exon
GTCAAACCGTGTCTCCTCAGTCTGTTCCAACTACAAATCTTGAAGTAAAAAATGGAGTGAATTGTGAACATAGTCCTGTGGATTTAAGCAAG
Seq A exon
GTAGACCTTCATTTCATGAAAAAAATTCCTACTGGGGCCGAGGCCTCCAATGTCCTGGTTGGAGAGGTGGATATTTTGGACCGTCCCATTGTTGCCTTTGTGAGGCTGTCTCCAGCTGTTCTTCTCTCAGGCCTAACAGAAGTGCCAATCCCAACAAG
Seq C2 exon
ATTTTTGTTTATCTTATTGGGTCCAGTAGGGAAAGGTCAGCAGTACCATGAGATTGGCAGATCCATGGCCACCATCATGACAGATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050438-'24-35,'24-33,25-35=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.613 A=0.000 C2=0.010
Domain overlap (PFAM):

C1:
PF075658=Band_3_cyto=FE(11.5=100)
A:
PF075658=Band_3_cyto=FE(20.0=100)
C2:
PF075658=Band_3_cyto=FE(11.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GTCAAACCGTGTCTCCTCAGT
R:
CATCTGTCATGATGGTGGCCA
Band lengths:
178-336
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains