Special

HsaEX6013999 @ hg19

Exon Skipping

Gene
ENSG00000188687 | SLC4A5
Description
solute carrier family 4, sodium bicarbonate cotransporter, member 5 [Source:HGNC Symbol;Acc:18168]
Coordinates
chr2:74477470-74480255:-
Coord C1 exon
chr2:74480101-74480255
Coord A exon
chr2:74479306-74479515
Coord C2 exon
chr2:74477470-74477644
Length
210 bp
Sequences
Splice sites
3' ss Seq
TCATCCCCCTTCTCTTCCAGGAA
3' ss Score
12.01
5' ss Seq
AAGGTGCCC
5' ss Score
5.96
Exon sequences
Seq C1 exon
CTCTTCAGTGACGTGGCCTACAAAGCCCGCAATCGGGAAGATCTGATCGCAGGAATTGATGAATTTCTGGATGAGGTCATCGTCCTTCCTCCTGGAGAATGGGACCCAAATATCCGGATTGAGCCCCCCAAGAAGGTGCCCTCTGCTGACAAGAG
Seq A exon
GAAATCTGTGTTCTCCCTAGCAGAGCTGGGCCAGATGAATGGCTCTGTGGGAGGAGGCGGCGGAGCTCCTGGAGGAGGCAATGGAGGTGGTGGTGGTGGTGGCAGTGGCGGCGGGGCTGGCAGTGGCGGGGCCGGCGGAACAAGCAGCGGGGATGATGGAGAGATGCCAGCCATGCATGAAATCGGGGAGGAACTTATCTGGACAGGAAG
Seq C2 exon
GTTCTTCGGTGGCCTGTGTCTGGATATCAAGAGGAAGTTGCCCTGGTTCCCAAGTGACTTCTATGATGGCTTCCACATTCAGTCCATCTCTGCCATCCTATTCATCTACCTCGGCTGTATCACCAACGCGATCACCTTTGGTGGGCTTCTGGGGGATGCCACCGACAATTATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188687-'18-23,'18-21,19-23=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.173 A=0.563 C2=0.000
Domain overlap (PFAM):

C1:
PF075658=Band_3_cyto=PD(13.4=69.2)
A:
PF0095516=HCO3_cotransp=PU(1.3=8.5)
C2:
PF0095516=HCO3_cotransp=FE(12.3=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:
TCTTCAGTGACGTGGCCTACA
R:
AAAGGTGATCGCGTTGGTGAT
Band lengths:
293-503
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains