Special

HsaEX0059829 @ hg19

Exon Skipping

Gene
ENSG00000188687 | SLC4A5
Description
solute carrier family 4, sodium bicarbonate cotransporter, member 5 [Source:HGNC Symbol;Acc:18168]
Coordinates
chr2:74466462-74474434:-
Coord C1 exon
chr2:74474163-74474434
Coord A exon
chr2:74469121-74469179
Coord C2 exon
chr2:74466462-74466662
Length
59 bp
Sequences
Splice sites
3' ss Seq
TGTCATGTGCTCATCCACAGTGA
3' ss Score
8.1
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
Exon sequences
Seq C1 exon
AGGCAATGGCCTGGACTACATGGAGTTCCGCCTCTGGATTGGCCTACACTCAGCTGTCCAGTGCCTTATCCTAGTGGCCACAGATGCCAGCTTTATCATCAAATATATCACCCGCTTCACCGAGGAGGGCTTCTCCACCCTTATCAGCTTCATCTTCATCTACGATGCCATCAAGAAGATGATCGGTGCCTTCAAGTACTACCCTATCAATATGGACTTCAAGCCAAACTTCATCACTACCTACAAGTGCGAGTGTGTCGCCCCTGACACAG
Seq A exon
TGAATACAACCGTGTTCAATGCTTCAGCCCCATTGGCACCAGACACCAACGCTTCTCTG
Seq C2 exon
TACAACCTCCTTAACCTCACAGCGTTGGACTGGTCCCTGCTGAGCAAGAAGGAGTGTCTGAGCTACGGCGGGCGCCTGCTTGGGAATTCCTGCAAGTTTATCCCAGACCTGGCGCTCATGTCCTTCATCCTTTTCTTTGGGACATACTCCATGACCCTGACCCTGAAGAAGTTCAAATTCAGCCGCTATTTTCCTACCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188687_MULTIEX1-2/2=1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF0095516=HCO3_cotransp=FE(19.2=100)
A:
PF0095516=HCO3_cotransp=FE(4.0=100)
C2:
PF0095516=HCO3_cotransp=FE(14.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGGTGCCTTCAAGTACTACCC
R:
CACTCCTTCTTGCTCAGCAGG
Band lengths:
145-204
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