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SRX3529245: GSM2912613: PTEN_VAMP-seq_Exp2; Homo sapiens; OTHER
8 ILLUMINA (NextSeq 500) runs: 32.1M spots, 1.2G bases, 416.4Mb downloads

Submitted by: NCBI (GEO)
Study: Assessment of Variant Abundance by Massively Parallel Sequencing for PTEN and TPMT
show Abstracthide Abstract
Determining the pathogenicity of human genetic variants is a critical challenge, and functional assessment is often the only option. Experimentally characterizing millions of possible missense variants in thousands of clinically important genes will likely require generalizable, scalable assays. Here we describe Variant Abundance by Massively Parallel Sequencing (VAMP-seq), which measures the effects of thousands of missense variants of a protein on intracellular abundance in a single experiment. We applied VAMP-seq to quantify the abundance of many thousands of single amino acid variants of two proteins, PTEN and TPMT, in which functional variants are clinically actionable. Overall design: Barcoded single amino acid variant libraries of EGFP-fused PTEN or TPMT were recombined into HEK293T cells previously engineered to contain a Bxb1 recombination site at the AAVS1 locus. Upon sorting cells for EGFP expression, genomic DNA was extracted. Barcodes were amplified and counted with Illumina sequencing. Barcodes were associated back to the corresponding PTEN or TPMT variant by comparison with a barcode-variant map previously created by sequencing the variant library plasmids using PacBio sequencing. Copyright 2018 University of Washington. Data and Scores are owned by the University of Washington. Permission is hereby granted to use, reproduce, and distribute the Data and Scores for noncommercial academic research purposes only, provided that (i) credit for source and copyright are included with each copy and (ii) a link to the original material is provided whenever the material is published elsewhere on the Web. For questions regarding use by non-profit entities or commercial purposes contact: Douglas Fowler, dfowler@uw.edu
Sample: PTEN_VAMP-seq_Exp2
SAMN08289382 • SRS2805156 • All experiments • All runs
Organism: Homo sapiens
Library:
Instrument: NextSeq 500
Strategy: OTHER
Source: GENOMIC
Selection: other
Layout: PAIRED
Construction protocol: Cells were transferred into a microfuge tube, pelleted and stored at -20˚C. Genomic DNA was prepared using the GentraPrep kit (Qiagen) or Dneasy kit (Qiagen). For TPMT: for each bin, all the purified DNA was spread over eight 25 uL PCR reactions containing Kapa Robust, primers GPS-landing-f (in the genome) and BC-GPS-P7-i#-UMI (3' of the barcode) to tag the barcodes with a unique molecular index (UMI) and add a sample index. UMI-tagging PCR were performed using the following conditions: initial denaturation 95 ˚C 2 minutes, followed by three cycles of (95 ˚C 15 seconds, 60 ˚C 20 seconds, 72 ˚C 3 minutes). The eight PCR reactions were pooled and the PCR amplicon was purified using 1x Ampure XP (Beckman Coulter). To shorten the amplicon and add the p5 and p7 Illumina cluster-generating sequences, the UMI-tagged barcodes were then amplified with primers BC-TPMT-P5-v2 and Illumina p7. This PCR was performed with Kapa Robust and SYBR green II on a Bio-Rad mini-opticon qPCR machine, reactions were monitored and removed before saturation of the SYBR green II signal, at around 25 cycles. The amplicons were pooled and gel purified. For PTEN: . Eight 50 μL first-round PCR reactions were each prepared with a final concentration of ~50 ng/μL input genomic DNA, 1x Kapa HiFi ReadyMix, and 0.25 μM of the KAM499/JJS_501a primers. The reaction conditions were 95 °C for 5 minutes, 98 °C for 20 seconds, 60 °C for 15 seconds, 72 °C for 90 seconds, repeat 7 times, 72 °C for 2 minutes, 4 °C hold. Eight 50 μL reactions were combined, bound to AMPure XP (Beckman Coulter), cleaned, and eluted with 40 μL water. 40% of the eluted volume was mixed with 2x Kapa Robust ReadyMix; JJS_seq_F and one of the indexed reverse primers, JJS_seq_R1a through JJS_seq_R12a were added at 0.25 μM each. Reaction conditions for the second round PCR were 95 °C for 3 minutes, 95 °C for 15 seconds, 60 °C for 15 seconds, 72 °C for 30 seconds, repeat 14 times, 72 °C for 1 minutes, 4 °C hold. Amplicons were extracted after separation on a 1.5% TBE/agarose gel using a Quantum Prep Freeze 'N Squeeze DNA Gel Extraction Kit (Bio-Rad).
Experiment attributes:
GEO Accession: GSM2912613
Links:
Runs: 8 runs, 32.1M spots, 1.2G bases, 416.4Mb
Run# of Spots# of BasesSizePublished
SRR64377855,029,423181.1M65.2Mb2018-03-13
SRR64377864,771,094171.8M61.7Mb2018-03-13
SRR64377874,607,121165.9M59.9Mb2018-03-13
SRR64377885,191,094186.9M67.3Mb2018-03-13
SRR64377891,744,35362.8M22.7Mb2018-03-13
SRR64377901,483,08453.4M19.4Mb2018-03-13
SRR64377914,480,745161.3M58Mb2018-03-13
SRR64377924,783,858172.2M62.3Mb2018-03-13

ID:
4904172

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