Special

HsaINT0000789 @ hg19

Intron Retention

Gene
Description
ATP-binding cassette, sub-family A (ABC1), member 7 [Source:HGNC Symbol;Acc:37]
Coordinates
chr19:1047452-1049004:+
Coord C1 exon
chr19:1047452-1047653
Coord A exon
chr19:1047654-1048893
Coord C2 exon
chr19:1048894-1049004
Length
1240 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGC
5' ss Score
8.07
3' ss Seq
ACCCGCGCCCCTCCCCGCAGGCC
3' ss Score
12.5
Exon sequences
Seq C1 exon
AGCCTGCTGTCGCCCGTGGCCTTCGGCTTCGGCTGCGAGAGCCTGGCTCTGCTGGAGGAGCAGGGCGAGGGCGCGCAGTGGCACAACGTGGGCACCCGGCCTACGGCAGACGTCTTCAGCCTGGCCCAGGTCTCTGGCCTTCTGCTGCTGGACGCGGCGCTCTACGGCCTCGCCACCTGGTACCTGGAAGCTGTGTGCCCAG
Seq A exon
GTGGGCCGTAGGGGGCGGGGCTCCGGGCCGGGTCGCACCTGCTTTGCGGGAGGCTGAGCTAGGGGTGTGGCCTCCAGGCCGTTTGGGGGTGGGGGGTGGCTTATTCCCTTGGAGAGAAGGCGGGGCTTCTTGGCACACGCATGCAGGTGGCTGCATTGGAGGGGCGGGGCCTGAGGCAGGTGGGCGGGGTTTCTGGGCCGCCTCATACCTGGACGCCCTGATTCCAGGTGTATGGCCAGAAGCTGGCACAGTCGCCGGGCGCTGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGAATCGCTTGAGCCCAGGAGTTTGAGACCAGGCTGGGCAATATAGTGAGACCTCATCAATACAAAAAGTTAGCTGGGCGTGGTGGCACGCTGGGCGTGGTGGCACGCTCCTGTAGTCCCAGCTACTCGGGAGGATGGGGTGGGAGGATCACTCGAGCCCAGGAGGTTGAGGCTGCTGTGAGCCGTGATCCCACCAGCCTGGGCAACAGAGTGAGACCTCCATCTCTTTAAAAAAAAAAAAAAAAAAAAAGCTGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGGTCATCTGAGGTCGGGATTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGCGGGTGCCTGTTTCCTAGCTACTTGGAAGGCAGAGGCAGGAGAAATGCTTGAATCCCGGAGGCGGAGGTTGCGGTGAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCAGTCTCAAAAAAAAAAAAACAAAAAAAAAAAAAACAAGGCCGGGCACGGTGGCTCACGCCTGCTTTCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTCCCAAAAATACAAAAAATTATCCAGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGACGTGAACTGGGGAGGCGGAGCTTGCAGCGAGTCAAAATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACCCCAAAAAAAGCCTGGTACACTCCTGGGGGGTGGGCTAAGCAATAACCCGCGCCCCTCCCCGCAG
Seq C2 exon
GCCAGTACGGGATCCCTGAACCATGGAATTTTCCTTTTCGGAGGAGCTACTGGTGCGGACCTCGGCCCCCCAAGAGTCCAGCCCCTTGCCCCACCCCGCTGGACCCAAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000064687-ABCA7:NM_019112:16
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=0.289
Domain overlap (PFAM):

C1:
PF126982=ABC2_membrane_3=PD(27.4=88.2)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGGCTCTGCTGGAGGAG
R:
CTTTGGGTCCAGCGGGGT
Band lengths:
271-1511
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