Special

HsaEX6013996 @ hg19

Exon Skipping

Gene
ENSG00000188687 | SLC4A5
Description
solute carrier family 4, sodium bicarbonate cotransporter, member 5 [Source:HGNC Symbol;Acc:18168]
Coordinates
chr2:74481746-74486770:-
Coord C1 exon
chr2:74486715-74486770
Coord A exon
chr2:74482902-74483059
Coord C2 exon
chr2:74481746-74481833
Length
158 bp
Sequences
Splice sites
3' ss Seq
CGTTTCCCCTCCCTGTCCAGCGG
3' ss Score
9.68
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
GTCATGCCCAGAGCAGAAGCATGAATGACATTTCTCTCACCCCAAACACAGACCAG
Seq A exon
CGGAAAAACAAATTCATGAAGAAGATCCCCAAGGACTCAGAAGCGTCCAACGTGCTCGTGGGCGAGGTGGACTTCCTAGACCAGCCATTCATCGCGTTCGTGCGCCTCATCCAGTCGGCCATGCTGGGAGGAGTGACCGAGGTGCCTGTCCCCACCAG
Seq C2 exon
ATTTCTGTTTATACTACTGGGACCTTCTGGGAGAGCAAAATCCTACAATGAAATTGGCCGTGCCATTGCAACCCTCATGGTAGATGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188687-'15-19,'15-18,16-19=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=0.579 A=0.151 C2=0.000
Domain overlap (PFAM):

C1:
PF075658=Band_3_cyto=FE(6.7=100)
A:
PF075658=Band_3_cyto=FE(19.4=100)
C2:
PF075658=Band_3_cyto=FE(10.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GCCCAGAGCAGAAGCATGAAT
R:
CCATGAGGGTTGCAATGGC
Band lengths:
131-289
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains