HsaEX6013999 @ hg38
Exon Skipping
Gene
ENSG00000188687 | SLC4A5
Description
solute carrier family 4 member 5 [Source:HGNC Symbol;Acc:HGNC:18168]
Coordinates
chr2:74250343-74253128:-
Coord C1 exon
chr2:74252974-74253128
Coord A exon
chr2:74252179-74252388
Coord C2 exon
chr2:74250343-74250517
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-'18-24,'18-22,19-24=AN
Average complexity
A_C3
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(1.1=8.5)
C2:
PF0095516=HCO3_cotransp=FE(10.8=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
No conservation detected
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