Special

HsaINT0084337 @ hg19

Intron Retention

Gene
Description
potassium voltage-gated channel, subfamily H (eag-related), member 4 [Source:HGNC Symbol;Acc:6253]
Coordinates
chr17:40311749-40314339:-
Coord C1 exon
chr17:40314266-40314339
Coord A exon
chr17:40312454-40314265
Coord C2 exon
chr17:40311749-40312453
Length
1812 bp
Sequences
Splice sites
5' ss Seq
GAGGTGGGT
5' ss Score
7.07
3' ss Seq
ACTCGATGTGTTTTCAACAGATC
3' ss Score
9.62
Exon sequences
Seq C1 exon
GGACCAGGCCCAGCCCAGAATTGGCCAGTGAGGCTGAGGAGGTGAAGGAAAAGGTTTGCCGGCTGAACCAGGAG
Seq A exon
GTGGGTTGGGGCTGGCTCAGAGACGTGCCTGATATAACAGCATTTCAGACCCTACACGTGGCTCACTTGAGGTCAGGAGTTTGGGACCAGCCTGGCCAACATGATGAAACCCTATCTCTGCTAAAAAATACAAAAATTAGCCAGGCACCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGACAAAATTGCGCCATTGCACTCCAGCCTGGGCGACAGGGCAAGACTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAGAGAGAGATATTCACGCTAGCTAGATGACCTTGGGCAAGTCCCACAACCACTCTGAACTTAAACCTTGGGCAAGTCCCACAACCGCTCTGAACTTAAACTTCCTCATCTAAAATGGGGAAATAGTAATATGTGCTTCCCAGAGTTTTAAGGATGAAATGAGAGTGCATATGTGCCTGGTCCAATCCCTGGCATGTCATAGGCACTCCGTACCAGTTGGTTTCCTTCCTCCCCGACTGGCTCAAGTTTCCCAGCCTGATAAGAGCATCTCTTCTCCCTCCACCACTGTAGGACTCTTTCCTGCCCAGGCCCTACCTCTTTCCCTTACCCCAGCCGTGGGTAATGAGTGCTAAGCAGATGCAGGGGCAGGGGACAGGGAGGCTGAGAGGCCTTCAGGCCTGGGGGACCTGGATCCAGATGTCTGAACTCTGTCCAGGAAGAACCTAGATTCTATATGCTGAGGCTCAGCCTCTGCCTCCTCCCCAAGGGATCTCAGAGTTGTCACCGCAGAGCAACCAGGCCCAGCCCCTGGGAGCCAGCCTTCCCTGTGTTCTGATAAACATCGGGCATCCCAGAGGGGCGGTGCCTGGGCTGTTTCAGGCCCTGGGGCCTGAGCGGGGCTGGCTCTTGTTCAGCAAGCTTGAGGGCAAGTCCGCTCAAGGCCTCAGGCATCCCTCAATTCTAGGCCAGTGGTTCCCAAACAAGTATCTGTCAGAACTACCTGATAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTAAGGTGGGTGGATCACGAAGTCAGGAGATGGAGACCATTCTGGCTAACACGGTGAAACCCTGTCTCTACTAAGAATACGAAAAAAATTAGCCGGGCGTGGTGGCACACACCTATAGTCTCGGCTACTTGGGAGGCTGAGGCAGGAGAATCTCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGAAAAAAGAACTACCTGACAACCTATTAAATGCAGATTTCTGGGCCTCTTAGGATTGGGAATGTCTGGGGCGGAGCCCAGAAATGTGCCTTTTCAAAAGTTTCTTAGTTGATTCTCTAGTCGCTGAAGTGTGAAAAGCACTGATAGAGACCCTTGAGCTTGTGTGATGGGATCAGCTGAGAATAATAAGGCTGTCACTTCACAGATGTGTGGCCTCTTTGAGCACATTTTTTAACATCTTGGGAAAGCTCGCGCGCGCGTGTGTGTGTAGGGGAGGAATAGCAATATCTGCTGCCCCAAATCCTTTCTGGAAAGAGACTGGGGCATTTTCCATCTAGGCAAAAATAACCCTCATCCTGCCTTTTTCCCAGGGTGGCCATGAGCAGAAAGTGGCTGCGAAAGAGCTTTGTAAACTGGAGAGGGGGGTGCACCTTGTTATTACTGTGGCACCTGTGAAACAACTCGATGTGTTTTCAACAG
Seq C2 exon
ATCTCTCGTCTCAATCAGGAGGTGTCTCAGCTTAGCCGGGAGCTGCGGCACATCATGGGCCTGCTGCAGGCCAGGCTGGGTCCCCCAGGCCACCCAGCAGGCTCCGCTTGGACCCCAGACCCTCCTTGTCCACAGCTGAGGCCACCATGCCTCTCTCCTTGTGCGTCCAGACCACCACCCAGCCTCCAGGATACTACGCTTGCTGAAGTTCACTGCCCAGCCAGTGTGGGGACCATGGAGACAGGGACTGCGCTCCTGGACTTGAGACCTTCCATATTGCCCCCCTACCCCTCAGAGCCTGACCCTCTGGGACCCTCTCCAGTGCCAGAGGCCTCACCCCCAACCCCAAGCCTCTTGAGGCACAGTTTCCAGTCCAGGTCAGACACGTTCCACTGACCCTGGCCCAGGGCCCAGGCCTGTCTGGGGTGGGCGCTGCCGCTCACCACTCAGGGAGGACCTGGGCCCCTTGGCTTCCTGCCTTGGGGTCAGCAGCCACCAGCTGGCCTGGTTGGCTCTGGATTTCTGGACTTTTTAATGAAGCGTGGTTACCTCTGACGCTATTCCCTTTTCCAAGCCTTCCCCAACCTCCCCCTCTGTGAGGGGAGCCACCTGAGGGCTGTGGAACCCAGCAGGCATGAGATGAACCGCAGTGCCCATTGGGCTGGGCAGATGAGATCCTACTTTCTCCCCAGGACCTGGAGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000089558-KCNH4:NM_012285:15
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=NA C2=0.992
Domain overlap (PFAM):

C1:
PF104734=CENP-F_leu_zip=PU(50.0=84.0),PF0148612=K-box=PU(41.9=72.0)
A:
NA
C2:
PF104734=CENP-F_leu_zip=PD(45.2=14.4),PF0148612=K-box=PD(53.5=17.4)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAAAGGTTTGCCGGCTGAAC
R:
CACTGGAGAGGGTCCCAGAG
Band lengths:
351-2163
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