Special

HsaEX6023016 @ 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
chr17:42325753-42328956:-
Coord C1 exon
chr17:42328787-42328956
Coord A exon
chr17:42328527-42328700
Coord C2 exon
chr17:42325753-42327906
Length
174 bp
Sequences
Splice sites
3' ss Seq
ACCCCAGCCTCCGCCTGCAGGTG
3' ss Score
8.94
5' ss Seq
TGTGTGAGT
5' ss Score
5.84
Exon sequences
Seq C1 exon
GCCTGTCCATCCTCATGGAGCCCATCCTGTCCCGCATCCCCCTGGCTGTACTGTTTGGCATCTTCCTCTACATGGGGGTCACGTCGCTCAGCGGCATCCAGCTCTTTGACCGCATCTTGCTTCTGTTCAAGCCACCCAAGTATCACCCAGATGTGCCCTACGTCAAGCGG
Seq A exon
GTGAAGACCTGGCGCATGCACTTATTCACGGGCATCCAGATCATCTGCCTGGCAGTGCTGTGGGTGGTGAAGTCCACGCCGGCCTCCCTGGCCCTGCCCTTCGTCCTCATCCTCACTGTGCCGCTGCGGCGCGTCCTGCTGCCGCTCATCTTCAGGAACGTGGAGCTTCAGTGT
Seq C2 exon
CTGGATGCTGATGATGCCAAGGCAACCTTTGATGAGGAGGAAGGTCGGGATGAATACGACGAAGTGGCCATGCCTGTGTGAGGGGCGGGCCCAGGCCCTAGACCCTCCCCCACCATTCCACATCCCCACCTTCCAAGGAAAAGCAGAAGTTCATGGGCACCTCATGGACTCCAGGATCCTCCTGGAGCAGCAGCTGAGGCCCCAGGGCTGTGGGTGGGGAAGGAAGGCGTGTCCAGGAGACCTTCCACAAAGGGTAGCCTGGCTTTTCTGGCTGGGGATGGCCGATGGGGCCCACATTAGGGGGTTTGTTGCACAGTCCCTCCTGTTGCCACACTTTCACTGGGGATCCCGTGCTGGAAGACTTAGATCTGAGCCCTCCCTCTTCCCAGCACAGGCAGGGGTAGAAGCAAAGGCAGGAGGTGGGTGAGCGGGTGGGGTGCTTGCTGTGTGACCTTGGGCAAGTCCCTTGACCTTTCCAGCCTATATTTCCTCTTCTGTAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000004939-'29-26,'29-25,30-26=AN
Average complexity
A_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=0.000
Domain overlap (PFAM):

C1:
PF0095516=HCO3_cotransp=FE(19.7=100)
A:
PF0095516=HCO3_cotransp=PD(3.9=19.0)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


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:
TTCCTCTACATGGGGGTCACG
R:
TTCCTTGGAAGGTGGGGATGT
Band lengths:
248-422
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains