HsaEX6023014 @ hg19
Exon Skipping
Gene
ENSG00000004939 | SLC4A1
Description
solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) [Source:HGNC Symbol;Acc:11027]
Coordinates
chr17:42330486-42332655:-
Coord C1 exon
chr17:42332629-42332655
Coord A exon
chr17:42331864-42332030
Coord C2 exon
chr17:42330486-42330739
Length
167 bp
Sequences
Splice sites
3' ss Seq
CCTGCTACCCCCTCCCACAGAAA
3' ss Score
9.68
5' ss Seq
CACGTGAGA
5' ss Score
5.23
Exon sequences
Seq C1 exon
GTCATCGGGGACTTCGGGGTCCCCATC
Seq A exon
AAACTCTCGGTGCCTGATGGCTTCAAGGTGTCCAACTCCTCAGCCCGGGGCTGGGTCATCCACCCACTGGGCTTGCGTTCCGAGTTTCCCATCTGGATGATGTTTGCCTCCGCCCTGCCTGCTCTGCTGGTCTTCATCCTCATATTCCTGGAGTCTCAGATCACCAC
Seq C2 exon
GCTGATTGTCAGCAAACCTGAGCGCAAGATGGTCAAGGGCTCCGGCTTCCACCTGGACCTGCTGCTGGTAGTAGGCATGGGTGGGGTGGCCGCCCTCTTTGGGATGCCCTGGCTCAGTGCCACCACCGTGCGTTCCGTCACCCATGCCAACGCCCTCACTGTCATGGGCAAAGCCAGCACCCCAGGGGCTGCAGCCCAGATCCAGGAGGTCAAAGAGCAGCGGATCAGTGGACTCCTGGTCGCTGTGCTTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000004939-'21-20,'21-19,24-20=AN
Average complexity
A_C2
Mappability confidence:
100%=100=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:
NA
A:
PF0095516=HCO3_cotransp=FE(19.4=100)
C2:
PF0095516=HCO3_cotransp=FE(29.9=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATCGGGGACTTCGGGGT
R:
GATCCGCTGCTCTTTGACCTC
Band lengths:
251-418
Functional annotations
There are 1 annotated functions for this event
PMID: 10364201
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: not specified. ELM ID: ELMI000605; ELM sequence: SNSSAR; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)