GFI1B

growth factor independent 1B transcriptional repressor

Summary

This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

Known Variants87 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs149748855	9:135,829,062	C/T	downstream gene variant	—
rs2905072	9:135,845,035	G/A	intron variant	—
rs11243968	9:135,851,156	T/C	intron variant	—
rs189806022	9:135,859,699	G/C	regulatory region variant	—
rs2073577	9:135,861,998	T/G	—	benign
rs201670238	9:135,862,050	G/A	—	benign
rs2132640958	9:135,862,124	T/A	—	uncertain significance
rs544599977	9:135,862,132	G/A	—	benign
rs556644999	9:135,862,135	G/T	stop gained	—
rs775541235	9:135,862,136	A/G	—	uncertain significance
rs568826386	9:135,862,163	C/G	—	uncertain significance
rs114955344	9:135,862,165	G/A	—	benign
rs606141	9:135,862,479	A/G	—	benign
rs8193001	9:135,862,495	C/T	—	benign
rs2073578	9:135,862,592	A/C	—	benign
rs633153	9:135,862,632	T/C	—	benign
rs1849107148	9:135,862,690	G/A	—	uncertain significance
rs139685732	9:135,862,716	T/C	—	benign
rs149810016	9:135,862,746	C/A	—	benign
rs1381935874	9:135,862,747	T/C	—	uncertain significance
rs368601873	9:135,862,798	C/T	—	uncertain significance
rs11793702	9:135,862,813	C/T	—	likely benign
rs2073579	9:135,862,984	C/G	—	benign
rs631754	9:135,862,987	C/T	—	benign
rs8193002	9:135,863,035	G/A	—	benign
rs62579579	9:135,863,295	A/G	—	benign
rs615667	9:135,863,485	G/A	—	benign
rs62579580	9:135,863,502	G/A	—	benign
rs148081644	9:135,863,575	T/A	—	likely benign
rs115534814	9:135,863,587	G/T	—	likely benign
rs1470967398	9:135,863,623	C/T	—	uncertain significance
rs145562579	9:135,863,634	G/A	—	benign
rs143926538	9:135,863,638	C/T	—	likely benign
rs533662277	9:135,863,703	C/T	—	uncertain significance
rs2539504317	9:135,863,716	C/G	—	uncertain significance
rs2539504622	9:135,863,758	A/G	—	uncertain significance
rs147263604	9:135,863,759	C/T	—	benign
rs368905369	9:135,863,800	T/A	—	uncertain significance
rs745314098	9:135,863,814	T/C	—	uncertain significance
rs769515561	9:135,863,830	C/T	—	uncertain significance
rs527297896	9:135,863,848	G/T	—	conflicting classifications of pathogenicity
rs2073820	9:135,864,177	T/C	—	benign
rs2073819	9:135,864,190	C/A	—	benign
rs605441	9:135,864,279	G/A	—	benign
rs60757417	9:135,864,436	C/G	—	benign
rs142421593	9:135,864,448	G/T	—	uncertain significance
rs762304847	9:135,864,457	A/G	—	pathogenic
rs376762177	9:135,864,458	C/T	—	likely pathogenic
rs146007027	9:135,864,461	C/G	—	uncertain significance
rs973515605	9:135,864,479	A/T	—	uncertain significance
rs148728985	9:135,864,485	G/A	—	uncertain significance
rs771408008	9:135,864,487	C/T	—	uncertain significance
rs570058270	9:135,864,488	G/C	—	likely pathogenic
rs144046935	9:135,864,505	C/T	—	uncertain significance
rs150813342	9:135,864,513	C/T	—	likely benign
rs766382842	9:135,864,514	G/A	—	uncertain significance
rs753406078	9:135,864,518	G/A	—	uncertain significance
rs139313847	9:135,864,528	C/T	—	likely benign
rs370269669	9:135,864,529	G/A	—	likely benign
rs147726410	9:135,864,546	C/T	—	likely benign
rs62638686	9:135,864,547	G/T	—	uncertain significance
rs140900853	9:135,864,561	G/A	—	likely benign
rs373796028	9:135,864,585	G/C	—	uncertain significance
rs200207746	9:135,864,589	G/T	—	uncertain significance
rs602793	9:135,864,859	A/G	—	benign
rs769624853	9:135,865,124	G/C	—	uncertain significance
rs2539511150	9:135,865,145	G/A	—	uncertain significance
rs367947845	9:135,865,148	G/A	—	uncertain significance
rs371084332	9:135,865,156	G/A	—	uncertain significance
rs761044764	9:135,865,172	G/T	—	pathogenic
rs1588442757	9:135,865,203	C/A	—	likely benign
rs368151614	9:135,865,215	G/A	—	likely benign
rs1849225412	9:135,865,238	G/A	—	uncertain significance
rs765446969	9:135,865,240	G/A	—	uncertain significance
rs866282944	9:135,865,262	C/G	—	likely benign
rs1554724691	9:135,865,264	G/A	—	pathogenic
rs1554724694	9:135,865,273	A/T	—	pathogenic
rs1849228141	9:135,865,295	G/A	—	pathogenic
rs681470	9:135,865,359	A/G	—	benign
rs8193003	9:135,865,496	C/T	—	benign
rs8193004	9:135,866,154	T/C	—	benign
rs587777211	9:135,866,303	C/T	stop gained	pathogenic
rs2539515591	9:135,866,313	A/G	—	uncertain significance
rs775963992	9:135,866,367	T/C	missense variant	pathogenic
rs147973999	9:135,866,425	C/G	—	uncertain significance
rs4962034	9:135,866,648	G/C	—	benign
rs667805	9:135,866,693	A/G	—	benign

Gene information from NCBI Gene. Variant classifications from ClinVar.