Human Gene AL450992.1 (ENST00000432386.1) Description and Page Index
Description: Homo sapiens cDNA FLJ43896 fis, clone TESTI4009752. (from mRNA AK125884) RefSeq Summary (NR_103561): This pseudogene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Jun 2013]. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## Gencode Transcript: ENST00000432386.1 Gencode Gene: ENSG00000229021.2 Transcript (Including UTRs) Position: hg38 chr1:151,994,531-152,042,774 Size: 48,244 Total Exon Count: 13 Strand: +
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
AK125884 - Homo sapiens cDNA FLJ43896 fis, clone TESTI4009752. JD030110 - Sequence 11134 from Patent EP1572962. AF379625 - Homo sapiens AC2 pseudogene, precursor RNA sequence.