Special

HsaEX0059803 @ hg38

Exon Skipping

Gene
ENSG00000114923 | SLC4A3
Description
solute carrier family 4 member 3 [Source:HGNC Symbol;Acc:HGNC:11029]
Coordinates
chr2:219640430-219641980:+
Coord C1 exon
chr2:219640430-219640599
Coord A exon
chr2:219640789-219640962
Coord C2 exon
chr2:219641651-219641980
Length
174 bp
Sequences
Splice sites
3' ss Seq
CCCACTGGCTGCTCCCCTAGGTG
3' ss Score
9.04
5' ss Seq
GCGGTAAGG
5' ss Score
9.63
Exon sequences
Seq C1 exon
GCCTGTCCATCGTCATGGGGGCTGTGCTGCGTCGGATCCCATTGGCTGTGCTCTTTGGGATCTTCCTGTACATGGGGGTCACGTCCCTGTCTGGTATCCAGCTGTCCCAGCGTTTGTTGCTCATCCTCATGCCGGCAAAACACCATCCTGAGCAGCCCTATGTGACCAAG
Seq A exon
GTGAAGACGTGGCGGATGCATCTGTTCACCTGCATCCAGCTGGGCTGCATCGCACTGCTCTGGGTGGTCAAGTCCACGGCGGCCTCACTCGCCTTTCCCTTCCTGCTGCTGCTCACGGTGCCTCTGAGGCATTGCCTTCTGCCCCGGCTCTTCCAGGACAGGGAGCTGCAGGCG
Seq C2 exon
CTGGACTCGGAAGATGCTGAACCAAACTTCGATGAGGATGGCCAGGATGAGTACAATGAGCTGCACATGCCAGTGTGACCCTTGAAGACAGTGCCCCTCAGAGACCCCAAGACCTTAGGGATTGACACCTGGGCCTCAGGCAGAGCCCAGCCCTGGGCTGGGGGGCTCCTCAGGACCCAGAGATGTGCCTGGAACCACTCCTGATGCCATGGCTAGAGTGGCCCCCCTGACTTCTGCCCGGGGTGTTGACCTCGCCTCACCTTTCACAGACCAGACCGGCACAGGCTTTGAGCTCATTATAACCACACTCCTTGTCTCGTGTCTGCCTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114923_CASSETTE7
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.440
Domain overlap (PFAM):

C1:
PF0095516=HCO3_cotransp=FE(11.5=100)
A:
PF0095516=HCO3_cotransp=PD(2.3=19.0)
C2:
NO


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:
AAAACACCATCCTGAGCAGCC
R:
CCATGGCATCAGGAGTGGTTC
Band lengths:
246-420
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