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Table 2 Gene content of 4q deletion Genes/putative transcriptional units within the deleted region on chromosomes 4q. ESTs a-f are represented in figure 1. An attempt to gauge the approximate expression levels of each gene was based on the number of EST clones present in the UCSC Human Genome Browser (Nov.2002/Apr.2003 releases). A brief summary of gene function and a representative accession number, where informative, is also included. TUBB4Q (4q35) is omitted from this list because it is a confirmed pseudogene.

From: A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation

4q35 GENE

EST exp.

Function/comments

FAT

++++

Cadherin-related tumor suppressor homologue precursor

EST a

+

(BE856720) Novel.

EST b

+

(BM806339) Novel. Contains 5 1/2 copies of 34aa repeat motif

EST c

++

(AI917275) Novel. No obvious ORF

ZFP42/FLJ32157

+

(AK056719) Similar to transcriptional repressor protein YY1

FLJ25801

+

(AK098667) Protein contains SMC (chromosome segregation ATPase) domain and PRY/SPRY domains (unknown function).

EST d

+++

(BU571187) Novel.

EST e

+

(BC033535) Novel.

EST f

+

(BC029568) LOC256307 novel predicted gene

FRG1

++++

Facioscapulohumeral muscular dystrophy region gene 1

DUX4

+

Homeobox protein, multiple copies.