|
Location (from NCBI, GRCh38) |
Gene/Locus | Gene/Locus name |
Gene/Locus MIM number |
Phenotype |
Phenotype MIM number |
Inheritance |
Pheno map key |
Comments |
Mouse symbol (from MGI) |
|---|---|---|---|---|---|---|---|---|---|
|
21:38,367,261-38,661,783
21q22.2 |
ERG, LMPHM14 | ETS transcription factor ERG | 165080 | Lymphatic malformation 14 | 620602 | Autosomal dominant | 3 | fused with EWS in Ewing sarcoma, with FUS in leukemia | Erg |
|
21:38,739,021-38,773,477
21q22.2 |
C21orf24 | Chromosome 21 open reading frame 24 | 611723 | ||||||
|
21:38,805,183-38,824,955
21q22.2 |
ETS2 | ETS protooncogene 2, transcription factor | 164740 | proximal q22.3 | Ets2 | ||||
|
21:39,174,769-39,183,514
21q22.2 |
PSMG1, DSCR2, C21LRP | Proteasome (prosome, macropain) assembly chaperone 1 | 605296 | Psmg1 | |||||
|
21:39,184,176-39,321,212
21q22.2 |
BRWD1, WRD9, C21orf107, CILD51 | Bromodomain and WD repeat domain-containing protein 1 | 617824 | Ciliary dyskinesia, primary, 51 | 620438 | Autosomal recessive | 3 | Brwd1 | |
|
21:39,342,315-39,349,088
21q22.2 |
HMGN1, HMG14 | High-mobility group nucleosomal binding protein 1 | 163920 | Hmgn1 | |||||
|
21:39,380,326-39,428,528
21q22.2 |
GET1, WRB, CHD5 | Guided entry of tail-anchored proteins factor 1 | 602915 | Get1 | |||||
|
21:39,445,865-39,515,506
21q22.2 |
SH3GBR | SH3 domain binding glutamic acid-rich protein | 602230 | Sh3bgr | |||||
|
21:39,612,940-39,673,137
21q22.2 |
B3GALT5, GLCT5 | UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5 | 604066 | B3galt5 | |||||
|
21:39,711,771-39,802,081
21q22.2 |
IGSF5, JAM4 | Immunoglobulin superfamily, member 5 | 610638 | Igsf5 |