HsaEX0059831 @ hg38
Exon Skipping
Gene
ENSG00000188687 | SLC4A5
Description
solute carrier family 4 member 5 [Source:HGNC Symbol;Acc:HGNC:18168]
Coordinates
chr2:74226957-74227878:-
Coord C1 exon
chr2:74227810-74227878
Coord A exon
chr2:74227517-74227564
Coord C2 exon
chr2:74226957-74227130
Length
48 bp
Sequences
Splice sites
3' ss Seq
CTCTGATCCCCATTTTACAGATG
3' ss Score
8.62
5' ss Seq
CCAGTGAGC
5' ss Score
4.44
Exon sequences
Seq C1 exon
TGTATCCCCCTGCCGGTGCTGTACGGAGTCTTCCTCTACATGGGCGTGGCCTCCCTGAATGGCATCCAG
Seq A exon
ATGGGGACCGGAGGGTCAGAATTCAAAATCCAGAAGAAGCTGACTCCA
Seq C2 exon
TTCTGGGAACGCTGCAAGCTCTTCCTGATGCCAGCCAAGCACCAGCCGGACCATGCCTTCCTGCGGCACGTGCCGCTGCGCCGGATCCACCTCTTCACCCTGGTGCAGATCCTCTGCCTGGCGGTGCTCTGGATCCTCAAATCCACGGTGGCTGCCATCATCTTCCCGGTCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188687_MULTIEX4-2/5=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.006 A=0.000 C2=0.114
Domain overlap (PFAM):
C1:
PF0095516=HCO3_cotransp=PU(37.9=95.7)
A:
PF0095516=HCO3_cotransp=FE(2.8=100)
C2:
PF0095516=HCO3_cotransp=PD(58.6=58.6)
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTCTTCCTCTACATGGGCGT
R:
ACCAGGGTGAAGAGGTGGATC
Band lengths:
147-195
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development