Special

HsaEX6013994 @ hg19

Exon Skipping

Gene
ENSG00000188687 | SLC4A5
Description
solute carrier family 4, sodium bicarbonate cotransporter, member 5 [Source:HGNC Symbol;Acc:18168]
Coordinates
chr2:74486715-74491426:-
Coord C1 exon
chr2:74491274-74491426
Coord A exon
chr2:74489264-74489359
Coord C2 exon
chr2:74486715-74486770
Length
96 bp
Sequences
Splice sites
3' ss Seq
CCTTCTGATTCTCCTCCCAGATC
3' ss Score
10.72
5' ss Seq
TGTGTGAGT
5' ss Score
5.84
Exon sequences
Seq C1 exon
ATGATGTCATTGAGAAGCAGATTGAGGATGGTCTCCTGCGGCCAGAGCTCCGGGAGAGGGTCAGTTACGTCCTCCTGAGGAGGCACCGCCACCAAACCAAGAAGCCCATCCACCGCTCCTTAGCTGACATTGGGAAGTCAGTCTCCACCACAA
Seq A exon
ATCGCAGTCCTGCCCGGAGCCCTGGTGCTGGCCCGAGTCTACACCACTCCACGGAAGACCTGCGGATGCGGCAGAGTGCAAATTACGGACGTCTGT
Seq C2 exon
GTCATGCCCAGAGCAGAAGCATGAATGACATTTCTCTCACCCCAAACACAGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188687-'13-17,'13-16,14-17=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.318 A=0.697 C2=0.579
Domain overlap (PFAM):

C1:
PF075658=Band_3_cyto=FE(19.0=100)
A:
PF075658=Band_3_cyto=FE(11.9=100)
C2:
PF075658=Band_3_cyto=FE(6.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAGAAGCAGATTGAGGATGGT
R:
ATTCATGCTTCTGCTCTGGGC
Band lengths:
169-265
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains