Special

HsaINT0144765 @ hg38

Intron Retention

Gene
ENSG00000167100 | SAMD14
Description
sterile alpha motif domain containing 14 [Source:HGNC Symbol;Acc:HGNC:27312]
Coordinates
chr17:50110040-50114079:-
Coord C1 exon
chr17:50113924-50114079
Coord A exon
chr17:50113049-50113923
Coord C2 exon
chr17:50110040-50113048
Length
875 bp
Sequences
Splice sites
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
3' ss Seq
CACCCCGGACTCCTCCCCAGAGC
3' ss Score
5.94
Exon sequences
Seq C1 exon
TTCCTGGATGAACCCCTCCCCCCTGTCCACCACTGGACCAGCCAGCAGGTGGGCCAGTGGCTGCAGAGCCTCAACCTGGAACAGTATGCTGCTGAGTTTGCTGCACGGCAGGTAGACGGGCCGCAGCTGCTGCAGCTGGACGGAAGCAAACTAAAG
Seq A exon
GTGGGTCAGAGTGGAAGGGCCATGACCCAGCCCAGTTACTTGAGGTGACTTTCAAGGATTTGAAGTCCCTCATCCTGACCTTTGACCCTCAGCCCAGCCTCCTGGGCTGACCTTTTCACTCCATCTGTGGCCACCACCCTGACCTCTGACCTCTAGGCAAGGTCCTTGGTCTAATCTTTTGAGTTGTAGCATGAATCCCTAGTTTGACTTGAAACTCTAGTCCATGACTTCAGTGTGACCTTCAAGCTCCAGCCCTGGTCTCCAGGCTGACCTTGCCCTCTAGGATGACCCTTGATGCATATGAGTGTCCTGGTATCATGGGAAGCCACATCTCCCCCTGGTCAGCTTGGTCTGATTCTGTCTCAGAGGCTAGTGGTAATAGTGGGCAGGGGGAGGCTGTAGGAAGGGGGTGGTGGCCTCTGACCTATAAGCTGGGAGGTTCCTGGCCTGTCTCCTGCTCTCTGCTGAGTTGCTTGGGGCAGGGATGGTGAAAAGAGCCCCCAGGAAGTCTCTGGAAGTGAGGAGGGTCCTTGGGCACTAACTGTGTGACCTTGGGCAAGTGACTCCCCATCTCTGGGCCTCAGGAGGTTGGGCAGGTCCGGGCCAAGGCTGAAATACTGAGTGGAGGAATGGTGGGGGAGGAGGAGGAAGCGCCTAATACCCCCAACCCTCATCTTTCCCAACCACACTCATTCCAAATTCTTGCTCTGGGGGTTCTGATCCATGGGCAGGTCACGGTGTGGGAGGCGGAGGCTCCACTCCAGGGAGGATTTGGAGCTCCACAGAGTACACCTGGGGCAAAAGGAGCCTGGGCGTGGGAGGCCAGGACTGGGAAGGTTCTGGGACTCTCTCCCTCACCCCGGACTCCTCCCCAG
Seq C2 exon
AGCCTGGGGCTCAGCAACTCTCATGACCGGGCACTGGTGAAGCGCAAGTTGAAGGAGATGGCAGCAGCTGCCGAGAAGGAGCGCAAGGCCCAGGAGAAGGCTGCGCGGCAGCGGGAGAAGCTCCGGCGCCGAGAGCAGGAGGCCAAGAAGAGCTAGGGGAGGGTGCACAGGCGCTGGCACCCGGCAGGGGCAGCCACTGGCTCCGCGGGCACAGGCCTCACCAGGGAGGCTGGACCTGGGCGCTGCACTTGGGCTAGCCTGGTCCCACGCTCTCAGGGGGGACATGCTCTCTCTTACCCTGTCACTTGGTCTAGACCCAGAGACCCCAGAAAGGGAGACCCCAGGGAGAGGGCCTAGTAATAAATCCTATTTTGAGGACTTGTTTGGCACAGAGTTCCTGGGGGAGGAGCAGATGAAGGGGAGAGGGCAGAGAGGCCAGGGCTGAGGCAAGTCTGGGAGGCTGGGTCAGGCTGTCCCATTGCCCTCAGGCCATCGTGGGGCTGGGGTGGAGGGGAGCTAGGAGGCCTGCCTGCCTGCTTGCCTGCCAGAGGCCCTGAGGCCGGGCCCCAGGGCTCAGAGCTGGGCTGGGCATTTCAGCAGGAGCCCATGTGGGAGCGGCTCCTCTCCACTCTTCCAGGGGGCTGTGTGGTGGGAGAGCTCTGTCCTGCTCCCCCAAGAGGCCAGTGGGCGCTGCAGCAAGTCGCACTCAGGGTAGACTCCCAGCCAAACTCCTCAACAGGAGCGCAGAGAAAGCAGCCTGGGGCGAGTGCAGTCTTTGCCAGGACTCAAGAGGGGAGGATGAACATCCCCTTCTCCCTCTCCCCTCCTCTGTCCTGTGGGTCCCAGGGGGCGAGATGACACCACACAGGTCTGCCTCTCAGGGCCCATTCAAGACCTGGTCTTTGACCCATTCTCCAAGCCAGGACTCCCTTCACTTCCTGCTGCTTCCTCAGAGGGCACCTAAGTCCTCTTTGGGAGCTGAGCAAACAGGAACTGATAGGGACAGAGGACACCACTTCCACCAGCCAAGGCCTAGGAGCTGCTGACCTGGTCAGCCCTCACCCCAGCCAGGCAGAGAGGCAAAACCTGGGGGTCCCCGGCAGCTACGAGATTGGAAAGGTTCATCAGCCCTCCCCCATCTGCCCCAGGCATTGTCAGGGAATCAGTGGGCTCAGAACTGGCAGGCGGTGCAAGCTCTGCTTCCCTGGGCCACACTGAGGGCTGGGGCCAGCTCCCTGGATGGGGGTGGAGTTTACCAGCAGCCTGGGGACAGCATGTGTCCTTTTTAGGAAATGTCCTTGGAGGAAGTGTTCATGTGTGGCGCTGGTCAGCAGCTAGTCCCGCTTCCAGGACACTGGTCAGAGTTACCGATGAGGCCTGGGGGCTCCCGCTTGGAAACCCCTCCAGCTCCTCCCATCTGCCCAGACAGAGCGGCAGATGGCACCAATGCATGCTGGCTCCCTCATTCCTGCCCAGGGGCTGTGGCTTACGGCCAGCACCCTGTACCTGGGACTCAGCCCTTATCCCCCCTCTGCTATCTGTGCTGGGAGAGGGGCTTCGGAGGGAAACAGATATGAGGACACTGGCACCATCTGGGCCTGGTGGCAGGGCCATGGGAGGTTGGAAGGCACCCACATCCTTAAAGCCATCAGTAGCTATAGTGGGTGCCCACCTGCATGTGAAGGGGAGGCAGTTCTCAATTTATTTCAATAAATCCTTATGATGTGCCAGTGACCAGAATTTCTGTCTGCTCCAGTTGTTGGGTTGGCCGGACTCTGCTGGGCCCTGAGTATGGTGGGACAACAGGTCTGTCACCAGGTGCTGGGCCATCCGGCGTTCTGAACAGATGGCTTTGCCCAGTGTTTTACTCACAGTCCTGAGCTGGGCCGGACGTCCCCGGTGCGTCATGTGGTGGTCACAGGGCACCGCAGTGTGCGTGTGTACGTGCGCACGTGTGGGTCCCCTCCCCCAGGGATGCAGCCAGGCCAGTCTCATTCAGTCTCCTCTTTACTGTGGGTGTGGGTGTCACTGTCACTGCCACAGCCACTGGGAGGGACACACAGCTTTAACCCCTGTGTGCTTAGGGGAAGGGTGGGGGCATTCAGGGTTATAAAACTAACTATATACACAGAAGGTCCTAGGGAGAAAGCCACCCTGAGCACACATGTCTGGGCACAGTGGGGGCTGGGGGCTGGAGCTCAGGCAGGATGGACTAGGCTTGTGGAGGAGCGGGTGGGCATGAGCATGTGAGGACATGCTGGGAGGGCTCAGGAGGTGGCACAGACATTGCCAAGGCCACTGCAGGGCCTCGAGCAGCTTGGCTGGATGGCAAGCTCTCGGTCTAACAAGGTTCTTCCACTTTAGAGTTGGGCCCTGTGAGAGCCACCCCCTCCGCCACCGACCTTCAAGCCCTGAGCGGAGGGAGAGGCTGCAGGACCAGCCTCATTCCCCACTCACGGGTGTAACTCCTTTCCCCACTCAGTCCCCAGGTCTGGAGGGCACCCACCCTCTTCCTAACACTTCAGCAGGCCAAGGCCAGGGTGCCTTTGTGGGCTGGGGGAATAAGGCAACGGGACATCCACTTGGAAGGCCTGTGCTGTGGAGGGTGCTGAGGGGGACCCAGTACCCCTGGCAGAAAAGTGACAGCCCTGGTCTCAGAGAGGAGGACTGCCATGGGAAAATGTCTCTGGGACACCCCATCAGGGTGGAGACATCCCTAACCCTCAGGCATCGCCCACAGAGATAGGGAGGCCACCGAGGGGTCTCCACAGAGATGGACTGGCACTTAGGGACCATCACAGACCTATCACCGCAGTGACTTCCATAGAGACAGAACCTGGTCATCAGGGAGAACCCACCCCCTGCTCCCCCAGGAGGATGGTGAGGGGCACCACGGTGGGGGGACCCAGAGGCGGCAGTCCGTCCTCTCAGGTGCAGATGCACGGCGGCCCTTAGCTGACGCGGTACGTGGACGTGTTCTTGGGCTCCGTGCTGGGCACACACCAGTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167100:ENST00000330175:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.583 A=NA C2=0.929
Domain overlap (PFAM):

C1:
PF0764712=SAM_2=PU(66.2=82.7)
A:
NA
C2:
PF0764712=SAM_2=PD(30.8=38.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGCTGGACGGAAGCAAACTA
R:
TCTGGGGTCTCTGGGTCTAGA
Band lengths:
354-1229
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