Special

HsaEX6013996 @ hg38

Exon Skipping

Gene
ENSG00000188687 | SLC4A5
Description
solute carrier family 4 member 5 [Source:HGNC Symbol;Acc:HGNC:18168]
Coordinates
chr2:74254619-74259643:-
Coord C1 exon
chr2:74259588-74259643
Coord A exon
chr2:74255775-74255932
Coord C2 exon
chr2:74254619-74254706
Length
158 bp
Sequences
Splice sites
3' ss Seq
CGTTTCCCCTCCCTGTCCAGCGG
3' ss Score
9.68
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
GTCATGCCCAGAGCAGAAGCATGAATGACATTTCTCTCACCCCAAACACAGACCAG
Seq A exon
CGGAAAAACAAATTCATGAAGAAGATCCCCAAGGACTCAGAAGCGTCCAACGTGCTCGTGGGCGAGGTGGACTTCCTAGACCAGCCATTCATCGCGTTCGTGCGCCTCATCCAGTCGGCCATGCTGGGAGGAGTGACCGAGGTGCCTGTCCCCACCAG
Seq C2 exon
ATTTCTGTTTATACTACTGGGACCTTCTGGGAGAGCAAAATCCTACAATGAAATTGGCCGTGCCATTGCAACCCTCATGGTAGATGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188687-'15-20,'15-19,16-20=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.579 A=0.151 C2=0.000
Domain overlap (PFAM):

C1:
PF075658=Band_3_cyto=FE(6.7=100)
A:
PF075658=Band_3_cyto=FE(19.4=100)
C2:
PF075658=Band_3_cyto=FE(10.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCCAGAGCAGAAGCATGAAT
R:
CCATGAGGGTTGCAATGGC
Band lengths:
131-289
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains