Representative Tissue - Transcripts in Protein-coding Genes
Gene Name : SMCHD1
Synonym : FSHD2, KIAA0650
Ensembl Gene ID : ENSG00000101596
Protein Class : Disease related genes, Human disease related genes, Predicted intracellular proteins
Gene Description : Structural maintenance of chromosomes flexible hinge domain containing 1
Molecular Function : Chromatin regulator, DNA-binding, Hydrolase
Disease Involvement : Disease variant, Hypogonadotropic hypogonadism, Kallmann syndrome, Microphthalmia
Tissue count:
Brain_Cerebellar Hemisphere : 1 / 13,     Brain_Cerebellum : 2 / 13,     Cells_EBV-transformed lymphocytes : 1 / 13,     Lung : 5 / 13,     Testis : 3 / 13,     Whole Blood : 2 / 13,    
 TREGT 
Rank     Transcript ID     Transcript
Length		 ORF
Length		  Transcript 
TPM		 Z-Score ≥ 3
Count		 Z-Score ≥ 3
Tissue1		 Z-Score ≥ 3
Tissue2		 Z-Score ≥ 3
Tissue3		 Z-Score ≥ 3
Tissue4
1 ENST00000320876 8821 6018 8.977490458 0
2 ENST00000583800 865 146 1.707689829 1 Lung
3 ENST00000584897 4143 452 1.319746061 2 Lung Testis
4 ENST00000581383 806 1.204196908 1 Lung
5 ENST00000609587 460 1.100097644 2 Lung Whole Blood
6 ENST00000583344 738 0.471340445 2 Brain_Cerebellar Hemisphere Brain_Cerebellum
7 ENST00000581631 729 0.241477569 1 Lung
8 ENST00000581711 546 0.173029078 0
9 ENST00000577300 506 0.138521705 1 Cells_EBV-transformed lymphocytes
10 ENST00000583441 657 0.072087655 1 Brain_Cerebellum
11 ENST00000581226 459 0.044083738 1 Testis
12 ENST00000577880 4951 4167 0.043973551 1 Testis
13 ENST00000585229 555 148 0.011590368 1 Whole Blood

ENSG00000101596 SMCHD1


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