Special

HsaEX0059817 @ hg38

Exon Skipping

Gene
ENSG00000080493 | SLC4A4
Description
solute carrier family 4 member 4 [Source:HGNC Symbol;Acc:HGNC:11030]
Coordinates
chr4:71546350-71555208:+
Coord C1 exon
chr4:71546350-71546528
Coord A exon
chr4:71547648-71547720
Coord C2 exon
chr4:71555140-71555208
Length
73 bp
Sequences
Splice sites
3' ss Seq
ATCTTTTGATTTGGTTTCAGGGA
3' ss Score
8.33
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
Exon sequences
Seq C1 exon
AAAGGAGCAGGGTATCACTTGGATCTCTTTTGGGTGGCCATCCTCATGGTTATATGCTCCCTCATGGCTCTTCCGTGGTATGTAGCTGCTACGGTCATCTCCATTGCTCACATCGACAGTTTGAAGATGGAGACAGAGACTTCTGCACCTGGAGAACAACCAAAGTTTCTAGGAGTGAG
Seq A exon
GGAACAAAGAGTCACTGGAACCCTTGTGTTTATTCTGACTGGTCTGTCAGTCTTTATGGCTCCCATCTTGAAG
Seq C2 exon
TTTATACCCATGCCTGTACTCTATGGTGTGTTCCTGTATATGGGAGTAGCATCCCTTAATGGTGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080493_MULTIEX1-22/22=21-C2
Average complexity
S
Mappability confidence:
93%=93=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0095516=HCO3_cotransp=FE(11.3=100)
A:
PF0095516=HCO3_cotransp=FE(4.6=100)
C2:
PF0095516=HCO3_cotransp=FE(4.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGTGGTATGTAGCTGCTACGG
R:
TGCACACCATTAAGGGATGCT
Band lengths:
174-247
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