Special

HsaEX6084756 @ hg19

Exon Skipping

Gene
ENSG00000080493 | SLC4A4
Description
solute carrier family 4, sodium bicarbonate cotransporter, member 4 [Source:HGNC Symbol;Acc:11030]
Coordinates
chr4:72263294-72313450:+
Coord C1 exon
chr4:72263294-72263370
Coord A exon
chr4:72306333-72306490
Coord C2 exon
chr4:72313363-72313450
Length
158 bp
Sequences
Splice sites
3' ss Seq
CCTTGGTTCTTCTCATGCAGCTG
3' ss Score
8.91
5' ss Seq
AAGGTAAGC
5' ss Score
10.22
Exon sequences
Seq C1 exon
GTAGCCCAGCCATGACCCATAGGAATCTGACTTCCTCCAGTCTGAATGACATTTCTGATAAACCGGAGAAGGACCAG
Seq A exon
CTGAAGAATAAGTTCATGAAAAAATTGCCACGTGATGCAGAAGCTTCCAACGTGCTTGTTGGGGAGGTTGACTTTTTGGATACTCCTTTCATTGCCTTTGTTAGGCTACAGCAGGCTGTCATGCTGGGTGCCCTGACTGAAGTTCCTGTGCCCACAAG
Seq C2 exon
GTTCTTGTTCATTCTCTTAGGTCCTAAGGGGAAAGCCAAGTCCTACCACGAGATTGGCAGAGCCATTGCCACCCTGATGTCTGATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080493-'7-10,'7-9,8-10=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=0.846 A=0.129 C2=0.000
Domain overlap (PFAM):

C1:
PF075658=Band_3_cyto=FE(11.8=100)
A:
PF075658=Band_3_cyto=FE(20.6=100)
C2:
PF075658=Band_3_cyto=FE(11.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TAGCCCAGCCATGACCCATAG
R:
TCATCAGACATCAGGGTGGCA
Band lengths:
163-321
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains