POLYMER GENOMICS
chr7·hg38·159.3 Mb
Atlas

Chromosome 7

Open chr7 in viewer
p22p21p15p14p13p12p11q11q21q22q31q32q33q34q35q36EGFR7p11.2BRAF7q34MET7q31.2CFTR7q31.2SHH7q36.3ELN7q11.23

The chromosome of voice, breath, and body plan — where the gene for human speech sits alongside the blueprint for lung epithelial channels and the master regulators of embryonic patterning.

Physical Properties
Length159.3 Mb
Centromeremetacentric
p-arm58.2 Mb
q-arm98.5 Mb
Genomic Features
Protein-coding genes989
Gene density6.2 / Mb
CpG islands15,433
EPIC v2 probes52,800
Notable
Largest geneCNTNAP2 (2.3 Mb)
Disease associations
Cystic fibrosis
Williams syndrome
Lung adenocarcinoma (EGFR)
· CFTR was one of the first genes cloned by positional cloning (1989)
· 7q11.23 deletion causes Williams syndrome
· Contains HOXA cluster controlling anterior body patterning
Genomic Architecture
Isochore heterogeneity — Strong GC variation — gene-dense/GC-rich segments enriched in Alu elements correlate with exonic density.
Fragile sites — FRA7G and FRA7H are aphidicolin-induced. IMMP2L at FRA7 spans >800 kb and requires more than one cell cycle to transcribe.
Largest gene — CNTNAP2 at 7q35-q36 spans 2.3 Mb — ~1.6% of the entire chromosome.
Evolutionary History
Ancestral composition — Derives from fusion of two ancestral mammalian chromosomes (7a and 7b/16p). Two major inversions shaped chr7 in the great ape lineage, all four breakpoints flanked by segmental duplications.
Marmoset segments — Sequences from marmoset chromosome 2 were split across 7p22, 7q11, and 7q22 by these inversions.
Deep Cuts
Williams syndrome and personality — One of the most striking genotype-personality correlations — hypersocial, musically gifted, yet profoundly disabled in visuospatial tasks. The reciprocal duplication produces social anxiety. Makes 7q11.23 the most inf…
FOXP2 is not "the" language gene — Better described as a gene for vocal motor learning shared with songbirds, bats, and cetaceans. Its "human-specific" changes are shared with Neanderthals.
CFTR heterozygote advantage — deltaF508 reaches ~4% frequency in Europeans — leading hypothesis is resistance to cholera/typhoid.
§ Deep dive
Isochore heterogeneityStrong GC variation — gene-dense/GC-rich segments enriched in Alu elements correlate with exonic density.
Fragile sitesFRA7G and FRA7H are aphidicolin-induced. IMMP2L at FRA7 spans >800 kb and requires more than one cell cycle to transcribe.
Largest geneCNTNAP2 at 7q35-q36 spans 2.3 Mb — ~1.6% of the entire chromosome.