HsaEX0059810 @ hg38
Exon Skipping
Gene
ENSG00000080493 | SLC4A4
Description
solute carrier family 4 member 4 [Source:HGNC Symbol;Acc:HGNC:11030]
Coordinates
chr4:71497501-71555208:+
Coord C1 exon
chr4:71497501-71497692
Coord A exon
chr4:71532062-71532175
Coord C2 exon
chr4:71555140-71555208
Length
114 bp
Sequences
Splice sites
3' ss Seq
TTTCTTTTTTATTTTTCCAGGCA
3' ss Score
10.52
5' ss Seq
AAGGTAGGT
5' ss Score
10.29
Exon sequences
Seq C1 exon
TACCATAATACTACCTTTGACTGGGCATTTTTGTCGAAGAAGGAGTGTTCAAAATACGGAGGAAACCTCGTCGGGAACAACTGTAATTTTGTTCCTGATATCACACTCATGTCTTTTATCCTCTTCTTGGGAACCTACACCTCTTCCATGGCTCTGAAAAAATTCAAAACTAGTCCTTATTTTCCAACCACA
Seq A exon
GCAAGAAAACTGATCAGTGATTTTGCCATTATCTTGTCCATTCTCATCTTTTGTGTAATAGATGCCCTAGTAGGCGTGGACACCCCAAAACTAATTGTGCCAAGTGAGTTCAAG
Seq C2 exon
TTTATACCCATGCCTGTACTCTATGGTGTGTTCCTGTATATGGGAGTAGCATCCCTTAATGGTGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080493_MULTIEX1-19/22=17-C2
Average complexity
C3*
Mappability confidence:
92%=92=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0095516=HCO3_cotransp=FE(12.1=100)
A:
PF0095516=HCO3_cotransp=FE(7.1=100)
C2:
PF0095516=HCO3_cotransp=FE(4.2=100)
Main Skipping Isoform:
ENST00000264485fB26136
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGACTGGGCATTTTTGTCGAAGA
R:
TGCACACCATTAAGGGATGCT
Band lengths:
243-357
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