Special

HsaEX0059809 @ hg38

Exon Skipping

Gene
ENSG00000080493 | SLC4A4
Description
solute carrier family 4 member 4 [Source:HGNC Symbol;Acc:HGNC:11030]
Coordinates
chr4:71486948-71532175:+
Coord C1 exon
chr4:71486948-71487018
Coord A exon
chr4:71497501-71497692
Coord C2 exon
chr4:71532062-71532175
Length
192 bp
Sequences
Splice sites
3' ss Seq
TTAATGTTTTTCTTCTTCAGTAC
3' ss Score
9.02
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
Exon sequences
Seq C1 exon
CTAATATCTCAATATCTAATGACACCACACTGGCCCCAGAGTATTTGCCAACTATGTCTTCTACTGACATG
Seq A exon
TACCATAATACTACCTTTGACTGGGCATTTTTGTCGAAGAAGGAGTGTTCAAAATACGGAGGAAACCTCGTCGGGAACAACTGTAATTTTGTTCCTGATATCACACTCATGTCTTTTATCCTCTTCTTGGGAACCTACACCTCTTCCATGGCTCTGAAAAAATTCAAAACTAGTCCTTATTTTCCAACCACA
Seq C2 exon
GCAAGAAAACTGATCAGTGATTTTGCCATTATCTTGTCCATTCTCATCTTTTGTGTAATAGATGCCCTAGTAGGCGTGGACACCCCAAAACTAATTGTGCCAAGTGAGTTCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080493_MULTIEX1-17/22=16-19
Average complexity
S
Mappability confidence:
91%=91=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(4.4=100)
A:
PF0095516=HCO3_cotransp=FE(12.1=100)
C2:
PF0095516=HCO3_cotransp=FE(7.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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:
ATATCTAATGACACCACACTGGCC
R:
TGGCACAATTAGTTTTGGGGTGT
Band lengths:
162-354
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