Special

HsaINT0000755 @ hg19

Intron Retention

Gene
Description
ATP-binding cassette, sub-family A (ABC1), member 6 [Source:HGNC Symbol;Acc:36]
Coordinates
chr17:67133437-67136889:-
Coord C1 exon
chr17:67136749-67136889
Coord A exon
chr17:67133642-67136748
Coord C2 exon
chr17:67133437-67133641
Length
3107 bp
Sequences
Splice sites
5' ss Seq
TTGGTATGT
5' ss Score
7.12
3' ss Seq
TCTTTTTATATGCATTACAGGAA
3' ss Score
8.24
Exon sequences
Seq C1 exon
GTTGTGTTCCACCATGATTACTTTCTCCTTCAGCGAATAGGCTAAATGAATATGAAACAGAAAAGCGTGTATCAGCAAACCAAAGCACTTCTGTGCAAGAATTTTCTTAAGAAATGGAGGATGAAAAGAGAGAGCTTATTG
Seq A exon
GTATGTTTAAAAATTTGTCTCTTTCCACGGTTAGCACTCTTACAGTGTTTCATTACCTACTGATTCTCTTATGTTCTCTTTTAATTAGTAGATGGGATTTATTGATTTTACCAGTTCTCTCTAGTTGTATTTGTTGAATTGAGAGACTGAAGAATAACATAAAATTATTAAAGACTAAAAGAATTCCTCATATAAAAAGAGATTAAGTGAACATTTAATTATATGGTAAATTACAGCAACTGCTAGAGCTACTACCAAATGTTATACACTTAGAGCCAAGAAGTACAAAAAAAATGTTGTCAGAAGAAATGGAGACATTTTAATTTTGTGGATTTATTTTCAAGGACATGAATTTTCTACACAAAAATTGTTTTTAAGAATTATGATCAACTAACACCACTGAAAGTCAGTTTGCATCAAGCAGGTGGGCTAATCACAGATGACTAGCCCAAATCTCAGTGGCTTAACACAGCAAATGTTTATTTTTTTATTTTTTATTTTTTTATTATTATTATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATACATATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCGCCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCATCCCACAACAGGCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTGCCATCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGCAATAGTTTACTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGTCACATTTTCTTAATCCAGTCTATCATTGTCGGACATTTGGGTTGGTTCCAAGTGTTTGCTATTGTGAATAGTGCCGCAGTAAACATACATGTGCATGTGTCTTTATAGCAGCATGATTTGTAGTCCTTTGGGTATATACCCAGTAATGAGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCACCACACTGACTTCCACAATGGTTGAACTAGTTTACATTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCGCCTGTTGTTTCTTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTCTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTTTTCATATCCTTTGCCCACTTTTTGATGGGGCTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTGGCCCTTTGTCAGATGAGTAGGTTGGGAAAATTTTCTCCCGTTTTGTAGGTTGCCTGTTCACCCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCTCATTTGTCAATTTTAGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCCTGCTTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTAACGTTTAAGTCTTTAATCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACACATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCGTTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTGGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCGATGCGGGCTCTTTTTTGGTTCCGTATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTATAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTGAGCCAAATCATGAGTGAATTCCCATTCACAATTGCTTCAAAGAGAATAAAATACTTAGGAATCCAACTTACAAGGGACGTGAAGGACCTCTTCAAGGAGAACTACAAAGCACTGCTCAATGAAATAAAAGAGGATACAAGCAAATGCTTATTTTTAACTCCTCATGGTCTAATGAAAGTTGAGAGTGGAAGTAAAGTAGGTTGGGTGGGTGAAGAAATCTTCTCCACACAATCATTCAGGCACCTAGGCTTCATCCAGGACCTCTGCCACCATCTTGGACCTTGAAGACCTCTAGAGGATCCTATGCATTCAGTCAAAAGATCAGGAAATAGTGGGACCAGGACAGTGAGAATATAGAAAGTTGTATATGTCCATGAACGAGGCCTGGAAGTAGTGCATATCACTTCTGCCCATATCCTGTGGTCCAGGAAATCATTCGGTTCCACTTAATTTCAGTAGGCTGAGAATGCAGTCAAGCATGGTGCCAAAGAGGTAATGATGATTGACATTGGTGAACAGCAATAGTAGTAGCCTCCACCAGCCAGTTCCTTTTCATTTTCTTTAGTTTACAATACAAGGATATGACAACTGGCAAAAATATTGCTATTTGCCACCATAAACTCTATCTAGGATACTCCATGTCTTATAAATTCTATAGTCAGCTGCCCATGCATATAGAGATTGTCATCCTGTTATTCACTCCATTAGTTTCTATGACGGCTTCTGCAGGAGTTCATGATTTAATGCAAAAGTTTTGTTCTAGTATTAGAGAATGATAAATGTGGCTACTGTCTCAGTATTTATCTTTCATTTGATTCTCCATGCTCTGAGGCTTGGAGAGCAGAGAGAACATAACTGTATAGCACAATTGGAATTTGTTTTCAACAGTATTTTGTATTAACTGAGATCTTTAAGTGAATGCAACCTTAATTCATTATTTTTCTTTTTATATGCATTACAG
Seq C2 exon
GAATGGGGCCTCTCAATACTTCTAGGACTGTGTATTGCTCTGTTTTCCAGTTCCATGAGAAATGTCCAGTTTCCTGGAATGGCTCCTCAGAATCTGGGAAGGGTAGATAAATTTAATAGCTCTTCTTTAATGGTTGTGTATACACCAATATCTAATTTAACCCAGCAGATAATGAATAAAACAGCACTTGCTCCTCTTTTGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000154262-ABCA6:NM_080284:2
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion (1st CDS intron)

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

C1:
PF126982=ABC2_membrane_3=PU(1.0=12.5)
A:
NA
C2:
PF126982=ABC2_membrane_3=FE(17.5=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
ALTERNATIVE
([1])
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development