Special

HsaINT0153450 @ hg19

Intron Retention

Gene
ENSG00000188687 | SLC4A5
Description
solute carrier family 4, sodium bicarbonate cotransporter, member 5 [Source:HGNC Symbol;Acc:18168]
Coordinates
chr2:74460529-74462341:-
Coord C1 exon
chr2:74462228-74462341
Coord A exon
chr2:74460691-74462227
Coord C2 exon
chr2:74460529-74460690
Length
1537 bp
Sequences
Splice sites
5' ss Seq
AAGGTTTGC
5' ss Score
5.42
3' ss Seq
CTCTGTTTGCTCCCACTCAGCCA
3' ss Score
5.4
Exon sequences
Seq C1 exon
GTCCGGGCCCTGGTGGCTGACTTTTCCATTGTTTTCTCCATCCTGATGTTCTGTGGAATCGATGCCTGTTTTGGCCTAGAAACTCCCAAGCTGCATGTGCCCAGTGTCATCAAG
Seq A exon
GTTTGCCCCTTTCCCTCGCTCTGGGCATCCAGTCTGCCTGCCTACCAGCTGCAGATTCTTTCCCCTCTGTGCTGATCAAACTCTCTTCTCCTCTTGGCCAAGAGACCATTTTAGTTCTCTGTGTGCCACCTTTCCTGAACACAGGCTCCCAGGAGCCAGTCCTTTGAGGTAGGGCGGGGAGGGGTAACATATTCACCAGGAAATCCTGATCTATAGTCACGAGGTGAGGAAGGCACTGGAATTCACCCTCCAACCCAGCAGAAGCCTCTTGATTCCTATTTGAGTGTCTCCAGTTCCCTGACCTCTAGCAATCTATAAGCTGGGCCAAATGGGATCCATTGAAACTGATCCCTTAGAACAGTGATTCTCAAAGTGTGGTCCTCAGACCAATATCATGGCATCACAGTCACAGGGAACTCGTTGGAAATGCAATTTCTCGGCCCCACCTGTGGAATCAGAAAAGCTGGGGGGTGGGACCAGCAATCTGCATTTTAACAAGCCCTTCAGGTGACTTGGAGTATGCTCAAGTTTGAGAACCACTGCTTAGAAATTACCCACTAGTTAGAACTGGTGACATATGCTTGTAGCTAAACCCAGCCCTACTCCCTCATAAGAGCACCAACCGGCCAGGTGCGGTGGCTCACGCCTATAATCCCAGAACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTGAGGAGATTGAGACCATCTTGGGTAACGGTGAAACCCCATCTCTACTACAGATACTAAAAAATTAGCCGGGCGTGGTGGCGGGCGCTTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGGAGGCAGAGCTTGCAGTGAGCGGAGATCACGCCACTGCACTGCAGCCTGGGTAACATAACAAGACTCTGTCTCAAAAACAAAAAAAAAAAGAAAGAAAGAAAGAAAAAAAAAAGAGCACCAACGATCTCACCAGAGTAGGGAGTCCAGATTCTAGAACTTACCCTCCCTGTCTTTAAGGTTTTTTTTGTTGTTGTTTGTTTGTTTGTTTTTTGAGACAAAGTCTTTTTATATATTCTCCTCATTCTGAACATGCAGGACTGAACTGATGTTCAGCATTTTACAGACAATTCTATAATGCTCCCAGACAGGTGACTCAGGAGAGGCAGAAGCAGCTGGCCCTGGGCCCACCCATTTCTTTATTCTTTTCTGCTGGGCCTCATTCCTGCTGTTTGTTATTTGCAGCAGGTGACTGTGCTCTCTCTCCTGGCTGCCCTCTGACCTTCACCTCCATGTTTCCTGACAAACCCCAGGGCTGTTGCAGCAAATTACCTTCTTAGTTTTACAGACACTGTCTGCATGCATGCTCCTTCCCATGTCTGAATTTAGTCTAAAGTTGCAGCTACCTAAGGTGTTTAAGGGAAAAGATTGCACTTGAAAAGTACCCAAAGTCAGGGAAAGTTGAGGAGGTGGGACAGCAGGCCAGGCGACAAGTGCCCTGGGACAAGGGAGAGAGGAAAGGGCCCCTCTCTGTTTGCTCCCACTCAG
Seq C2 exon
CCAACGCGGCCTGACCGAGGCTGGTTCGTGGCCCCCTTTGGGAAGAACCCGTGGTGGGTATACCCAGCAAGCATCCTGCCCGCCCTGCTGGTGACCATCCTGATCTTCATGGACCAGCAGATCACTGCCGTCATTGTCAACCGGAAGGAGAACAAACTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000188687-SLC4A5:NM_021196:17
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.007
Domain overlap (PFAM):

C1:
PF0095516=HCO3_cotransp=FE(14.1=100)
A:
NA
C2:
PF0095516=HCO3_cotransp=FE(11.2=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGGTGGCTGACTTTTCCAT
R:
TCAGTTTGTTCTCCTTCCGGT
Band lengths:
266-1803
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains