HsaEX0059832 @ hg38
Exon Skipping
Gene
ENSG00000188687 | SLC4A5
Description
solute carrier family 4 member 5 [Source:HGNC Symbol;Acc:HGNC:18168]
Coordinates
chr2:74224840-74231308:-
Coord C1 exon
chr2:74231236-74231308
Coord A exon
chr2:74226957-74227130
Coord C2 exon
chr2:74224840-74224995
Length
174 bp
Sequences
Splice sites
3' ss Seq
AGCCCCCGCTGTCCCCCTAGTTC
3' ss Score
8.5
5' ss Seq
ATGGTAAAG
5' ss Score
5.39
Exon sequences
Seq C1 exon
GGAACAGAGAGTAACCGGCATCATCGTCTTCATCCTGACGGGAATCTCTGTCTTCCTGGCTCCCATCCTAAAG
Seq A exon
TTCTGGGAACGCTGCAAGCTCTTCCTGATGCCAGCCAAGCACCAGCCGGACCATGCCTTCCTGCGGCACGTGCCGCTGCGCCGGATCCACCTCTTCACCCTGGTGCAGATCCTCTGCCTGGCGGTGCTCTGGATCCTCAAATCCACGGTGGCTGCCATCATCTTCCCGGTCATG
Seq C2 exon
ATCCTGGGCCTCATCATCGTTCGAAGGCTTCTGGATTTCATCTTTTCCCAGCACGACCTGGCCTGGATTGACAACATCCTCCCAGAGAAGGAAAAAAAGGAGACAGACAAGAAGAGGAAGAGAAAAAAAGGGGCCCACGAGGACTGTGATGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188687_MULTIEX4-3/5=C1-4
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.074 A=0.114 C2=0.395
Domain overlap (PFAM):
C1:
PF0095516=HCO3_cotransp=FE(4.5=100)
A:
PF0095516=HCO3_cotransp=PD(58.6=58.6)
C2:
PF0095516=HCO3_cotransp=PD(1.9=17.3)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAACAGAGAGTAACCGGCAT
R:
TCCTCATCACAGTCCTCGTGG
Band lengths:
228-402
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