Special

HsaINT0153299 @ hg19

Intron Retention

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
chr17:42333041-42334912:-
Coord C1 exon
chr17:42334718-42334912
Coord A exon
chr17:42333215-42334717
Coord C2 exon
chr17:42333041-42333214
Length
1503 bp
Sequences
Splice sites
5' ss Seq
AAGGTGGGG
5' ss Score
5.87
3' ss Seq
GCCTTGGTTTTCTGCTGCAGATC
3' ss Score
10.74
Exon sequences
Seq C1 exon
TTCTGCGAGACCAACGGTCTAGAGTACATCGTGGGCCGCGTGTGGATCGGCTTCTGGCTCATCCTGCTGGTGGTGTTGGTGGTGGCCTTCGAGGGTAGCTTCCTGGTCCGCTTCATCTCCCGCTATACCCAGGAGATCTTCTCCTTCCTCATTTCCCTCATCTTCATCTATGAGACTTTCTCCAAGCTGATCAAG
Seq A exon
GTGGGGGCCTATGGGGATGTTAATGCACACGGGAGGTTGTGTATAAGACTGAGACAGTGGCCGGGTGCGAGGGCTCAGGCCTGTAATCTCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACCCGAGATCAGGAGTTCAAGACCAGCCTGACCAACATTGTGAAACTCCATCTCTATTAAAAATACAAAAATCAGCCAGATGTGGTGGCATGCATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATTGTGCCACTACACTCCAGCCTGGGCAACAGAGCAAGAATCCGTCTCAAAAAAAAAAAAAAAAGACTGAGCCATTGTGTCCTCGCACATGTGTCTGTGCAGCATTTGTGTGTCTTTGCTTTCACCTGTGTACATAACCATGTGACTGTGCACATGACTGTGACAACATATGTGTCTGTGTCAACATATGTGTCTATGTCTGTGTAGTCACACATCTGCACACAGGACTGTGCAGCTGTGTTGACTGTGACCACATATGTGTTGGCACCTGCTGCCTGTGGCCAGCACTCTTGCTGAGGCATGAGAGGGTGCCTCTGTGTGCACATGTCCAGTTCATGACCACACATGACGTGAGCAATGGGTAGGTATGGGCATGACACTGAGCATGTGAAAGTACATGCACAGTGAGAGCTGGGGGGACTCTGGAGCCTCTGAAGTCCCCCACTCCCTCCCCTGTGCTTGTCCTCAAGAGCTGCAGGGCTTGTGGATGGAGTGCCCAGCCACCTTGGCTTGGCTCCCATCATCTTAAGCTCTGCTTGCCTTTGTACCTGCATTTTATATGGGAGAAGGGTGAGCCCTATGTGTTGTCCCCTGATTCTGTTGGATGGAGGGTCTTTCTGTGTCCAGGTCTTTTAACCCCTTGTTAGAAACTTCCCTGACCCTTGTTTCCTGACCTCCAGCCTTCTCATGTCTCCCAGGTCCTGGGTGTACATGTGTGCTCGCACACACACCCATTGCCTTCCATGGCCCTCCCTGCCTAAACCTAGGCTGTCTTCATTCCTGAAAACCAAGCTGTAGAATCCCATTTATCCTCTGTTTCCATGTCAATTGAGGAAGAAGATAGATGGATGGATGGATGAATAGATGGATAATGGATGGACGGATGGATGGATGGATGGATGGTTGGATGGATGGATGATTGATGAATGAGTGGGTGGATGATGGACGGATGAATGGATGGATAAATGGGTTGATAGATGATAGGTAGGTGGATGGATGGGTAGATGGATAATGAATGGATGGATGAATAATCAATGGATGATCAATGGATAATGGATAGATGAATGATGGATGGGTGGATAAATGGATGGATGATGAATTAATAGATGACTGGATGAATGGATAGTAGTGCTGGGTAGAGTTAGCTGGTGGTATTTTCCAGCCCAAGCCAAAGCTGGGAGAGAACAGAATGCCTTGGTTTTCTGCTGCAG
Seq C2 exon
ATCTTCCAGGACCACCCACTACAGAAGACTTATAACTACAACGTGTTGATGGTGCCCAAACCTCAGGGCCCCCTGCCCAACACAGCCCTCCTCTCCCTTGTGCTCATGGCCGGTACCTTCTTCTTTGCCATGATGCTGCGCAAGTTCAAGAACAGCTCCTATTTCCCTGGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000004939-SLC4A1:NM_000342:13
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=0.000
Domain overlap (PFAM):

C1:
PF0095516=HCO3_cotransp=FE(32.7=100)
A:
NA
C2:
PF0095516=HCO3_cotransp=PD(11.7=39.7),PF0095516=HCO3_cotransp=PU(15.5=75.9)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TCTAGAGTACATCGTGGGCCG
R:
TGCCAGGGAAATAGGAGCTGT
Band lengths:
350-1853
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains