HsaEX0059827 @ hg38
Exon Skipping
Gene
ENSG00000188687 | SLC4A5
Description
solute carrier family 4 member 5 [Source:HGNC Symbol;Acc:HGNC:18168]
Coordinates
chr2:74233402-74239535:-
Coord C1 exon
chr2:74239335-74239535
Coord A exon
chr2:74235101-74235214
Coord C2 exon
chr2:74233402-74233563
Length
114 bp
Sequences
Splice sites
3' ss Seq
TGCTCATCTCCTGTCTGCAGGTC
3' ss Score
10.9
5' ss Seq
AAGGTTTGC
5' ss Score
5.42
Exon sequences
Seq C1 exon
TACAACCTCCTTAACCTCACAGCGTTGGACTGGTCCCTGCTGAGCAAGAAGGAGTGTCTGAGCTACGGCGGGCGCCTGCTTGGGAATTCCTGCAAGTTTATCCCAGACCTGGCGCTCATGTCCTTCATCCTTTTCTTTGGGACATACTCCATGACCCTGACCCTGAAGAAGTTCAAATTCAGCCGCTATTTTCCTACCAAG
Seq A exon
GTCCGGGCCCTGGTGGCTGACTTTTCCATTGTTTTCTCCATCCTGATGTTCTGTGGAATCGATGCCTGTTTTGGCCTAGAAACTCCCAAGCTGCATGTGCCCAGTGTCATCAAG
Seq C2 exon
CCAACGCGGCCTGACCGAGGCTGGTTCGTGGCCCCCTTTGGGAAGAACCCGTGGTGGGTATACCCAGCAAGCATCCTGCCCGCCCTGCTGGTGACCATCCTGATCTTCATGGACCAGCAGATCACTGCCGTCATTGTCAACCGGAAGGAGAACAAACTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188687_CASSETTE3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.005
Domain overlap (PFAM):
C1:
PF0095516=HCO3_cotransp=FE(12.3=100)
A:
PF0095516=HCO3_cotransp=FE(6.9=100)
C2:
PF0095516=HCO3_cotransp=FE(11.2=100)
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGCGCTCATGTCCTTCATC
R:
TCCTTCCGGTTGACAATGACG
Band lengths:
242-356
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