Special

HsaEX0059811 @ hg19

Exon Skipping

Gene
ENSG00000080493 | SLC4A4
Description
solute carrier family 4, sodium bicarbonate cotransporter, member 4 [Source:HGNC Symbol;Acc:11030]
Coordinates
chr4:72425810-72432800:+
Coord C1 exon
chr4:72425810-72425971
Coord A exon
chr4:72429510-72429606
Coord C2 exon
chr4:72432721-72432800
Length
97 bp
Sequences
Splice sites
3' ss Seq
CTTGTACATTTTTTTCACAGTCT
3' ss Score
7.26
5' ss Seq
ACAGTGAGT
5' ss Score
8.34
Exon sequences
Seq C1 exon
ATCTTGGCACTTGTAGCTGTCAGAAAAGGCATGGACTACCTCTTCTCCCAGCACGACCTCAGCTTCCTGGATGATGTCATTCCAGAAAAGGACAAGAAAAAGAAGGAGGATGAGAAGAAAAAGAAAAAGAAGAAGGGAAGTCTGGACAGTGACAATGATGAT
Seq A exon
TCTGACTGCCCATACTCAGAAAAAGTTCCAAGTATTAAAATTCCAATGGACATCATGGAACAGCAACCTTTCCTAAGCGATAGCAAACCTTCTGACA
Seq C2 exon
GAGAAAGATCACCAACATTCCTTGAACGCCACACATCATGCTGATAAAATTCCTTTCCTTCAGTCACTCGGTATGCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080493-'26-27,'26-26,27-27
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.407 A=0.333 C2=0.663
Domain overlap (PFAM):

C1:
PF103594=Fmp27_WPPW=FE(63.1=100)
A:
PF103594=Fmp27_WPPW=PD(33.3=84.8)
C2:
PF103594=Fmp27_WPPW=PD(25.3=70.4)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTACCTCTTCTCCCAGCACGA
R:
ATCAGCATGATGTGTGGCGTT
Band lengths:
172-269
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