# Tools for annotating mutations in the 3D cancer genome

> **NIH NIH U01** · CHILDREN'S HOSP OF PHILADELPHIA · 2020 · $321,535

## Abstract

Project Summary
Genome sequencing has revealed thousands of mutations associated with various types
of cancer. The vast majority of the identified variants are noncoding. A number of
seminal studies have revealed that noncoding mutations can disrupt 3D genome
architecture and cause cancer. To accelerate discovery in this emerging area of
investigation, bioinformatics tools for integrative analysis of mutation and 3D genome
organization data is critically needed. In this project, we will develop a suite of
bioinformatics tools to predict the hierarchy of 3D genome organization and use such
information to interpret and identify causal noncoding mutations. In aim 1, we will
develop a method for identifying mutations that disrupt chromatin domain and
subdomain boundaries in cancers. In aim 2, we will use disease-relevant enhancer-
promoter network for prioritizing mutations that disrupt enhancer function. In aim 3, we
will develop a 3D cancer genome database for curating, querying and visualizing
chromatin interaction data together with transcriptomic, epigenomic, and mutation data.

## Key facts

- **NIH application ID:** 9899958
- **Project number:** 5U01CA226187-03
- **Recipient organization:** CHILDREN'S HOSP OF PHILADELPHIA
- **Principal Investigator:** Kai Tan
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $321,535
- **Award type:** 5
- **Project period:** 2018-04-19 → 2023-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9899958

## Citation

> US National Institutes of Health, RePORTER application 9899958, Tools for annotating mutations in the 3D cancer genome (5U01CA226187-03). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/9899958. Licensed CC0.

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